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Human (GRCh38.p14)
Description

aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:HGNC:757]

Gene Synonyms

BAH, CASQ2BP1, HAAH, JCTN

Location
About this transcript

This transcript has 6 exons, is annotated with 15 domains and features, is associated with 10934 variant alleles and maps to 393 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000379454.9ASPH-2035301758aaENSP00000368767.4
 
Protein coding
CCDS34898Q12797-1 NM_004318.4MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000517856.5ASPH-2086337113aaENSP00000429743.1
 
Protein coding
E5RHJ2 -GENCODE BasicTSL:2
ENST00000887925.1ASPH-2315423739aaENSP00000557984.1
 
Protein coding
--GENCODE Basic
ENST00000887927.1ASPH-2335409773aaENSP00000557986.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000887926.1ASPH-2325362757aaENSP00000557985.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000950777.1ASPH-2895343757aaENSP00000620836.1
 
Protein coding
--GENCODE Basic
ENST00000887931.1ASPH-2375342754aaENSP00000557990.1
 
Protein coding
--GENCODE Basic
ENST00000887933.1ASPH-2395307743aaENSP00000557992.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887930.1ASPH-2365294738aaENSP00000557989.1
 
Protein coding
--GENCODE Basic
ENST00000887938.1ASPH-2445274744aaENSP00000557997.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000950778.1ASPH-2905265739aaENSP00000620837.1
 
Protein coding
--GENCODE Basic
ENST00000913379.1ASPH-2835207729aaENSP00000583438.1
 
Protein coding
--GENCODE Basic
ENST00000887934.1ASPH-2405191714aaENSP00000557993.1
 
Protein coding
--GENCODE Basic
ENST00000887935.1ASPH-2415191715aaENSP00000557994.1
 
Protein coding
--GENCODE Basic
ENST00000887928.1ASPH-2345173696aaENSP00000557987.1
 
Protein coding
--GENCODE Basic
ENST00000887936.1ASPH-2425148701aaENSP00000557995.1
 
Protein coding
--GENCODE Basic
ENST00000887939.1ASPH-2455127695aaENSP00000557998.1
 
Protein coding
--GENCODE Basic
ENST00000950776.1ASPH-2885127680aaENSP00000620835.1
 
Protein coding
--GENCODE Basic
ENST00000887932.1ASPH-2385126682aaENSP00000557991.1
 
Protein coding
--GENCODE Basic
ENST00000887929.1ASPH-2355124681aaENSP00000557988.1
 
Protein coding
--GENCODE Basic
ENST00000950782.1ASPH-2945123715aaENSP00000620841.1
 
Protein coding
--GENCODE Basic
ENST00000887940.1ASPH-2465115695aaENSP00000557999.1
 
Protein coding
--GENCODE Basic
ENST00000950781.1ASPH-2935107707aaENSP00000620840.1
 
Protein coding
--GENCODE Basic
ENST00000950779.1ASPH-2915097695aaENSP00000620838.1
 
Protein coding
--GENCODE Basic
ENST00000950783.1ASPH-2955097710aaENSP00000620842.1
 
Protein coding
--GENCODE Basic
ENST00000887941.1ASPH-2475071699aaENSP00000558000.1
 
Protein coding
--GENCODE Basic
ENST00000950780.1ASPH-2925056687aaENSP00000620839.1
 
Protein coding
--GENCODE Basic
ENST00000887937.1ASPH-2435037665aaENSP00000557996.1
 
Protein coding
--GENCODE Basic
ENST00000950784.1ASPH-2964975681aaENSP00000620843.1
 
Protein coding
--GENCODE Basic
ENST00000887945.1ASPH-2514686772aaENSP00000558004.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000950785.1ASPH-2974684771aaENSP00000620844.1
 
Protein coding
--GENCODE Basic
ENST00000887950.1ASPH-2564662765aaENSP00000558009.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887960.1ASPH-2664659771aaENSP00000558019.1
 
Protein coding
--GENCODE Basic
ENST00000887966.1ASPH-2724655784aaENSP00000558025.1
 
Protein coding
--GENCODE Basic
ENST00000950787.1ASPH-2994634758aaENSP00000620846.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000887942.1ASPH-2484607730aaENSP00000558001.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887948.1ASPH-2544595742aaENSP00000558007.1
 
Protein coding
--GENCODE Basic
ENST00000887961.1ASPH-2674588752aaENSP00000558020.1
 
Protein coding
--GENCODE Basic
ENST00000887956.1ASPH-2624583743aaENSP00000558015.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000950795.1ASPH-3074582757aaENSP00000620854.1
 
Protein coding
--GENCODE Basic
ENST00000887943.1ASPH-2494581724aaENSP00000558002.1
 
Protein coding
--GENCODE Basic
ENST00000913382.1ASPH-2864580770aaENSP00000583441.1
 
Protein coding
--GENCODE Basic
ENST00000887970.1ASPH-2764565766aaENSP00000558029.1
 
Protein coding
--GENCODE Basic
ENST00000887947.1ASPH-2534544725aaENSP00000558006.1
 
Protein coding
--GENCODE Basic
ENST00000887955.1ASPH-2614541728aaENSP00000558014.1
 
Protein coding
--GENCODE Basic
ENST00000887964.1ASPH-2704541742aaENSP00000558023.1
 
Protein coding
--GENCODE Basic
ENST00000913381.1ASPH-2854539756aaENSP00000583440.1
 
Protein coding
--GENCODE Basic
ENST00000887946.1ASPH-2524538723aaENSP00000558005.1
 
Protein coding
--GENCODE Basic
ENST00000887959.1ASPH-2654538729aaENSP00000558018.1
 
Protein coding
--GENCODE Basic
ENST00000950792.1ASPH-3044511723aaENSP00000620851.1
 
Protein coding
--GENCODE Basic
ENST00000887962.1ASPH-2684502725aaENSP00000558021.1
 
Protein coding
--GENCODE Basic
ENST00000887949.1ASPH-2554498710aaENSP00000558008.1
 
Protein coding
--GENCODE Basic
ENST00000913383.1ASPH-2874494743aaENSP00000583442.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000950789.1ASPH-3014494714aaENSP00000620848.1
 
Protein coding
--GENCODE Basic
ENST00000950786.1ASPH-2984493709aaENSP00000620845.1
 
Protein coding
--GENCODE Basic
ENST00000887953.1ASPH-2594492711aaENSP00000558012.1
 
Protein coding
--GENCODE Basic
ENST00000887954.1ASPH-2604487710aaENSP00000558013.1
 
Protein coding
--GENCODE Basic
ENST00000950796.1ASPH-3084478725aaENSP00000620855.1
 
Protein coding
--GENCODE Basic
ENST00000887952.1ASPH-2584461700aaENSP00000558011.1
 
Protein coding
--GENCODE Basic
ENST00000913380.1ASPH-2844453696aaENSP00000583439.1
 
Protein coding
--GENCODE Basic
ENST00000950794.1ASPH-3064424701aaENSP00000620853.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000950797.1ASPH-3094423708aaENSP00000620856.1
 
Protein coding
--GENCODE Basic
ENST00000887963.1ASPH-2694373682aaENSP00000558022.1
 
Protein coding
--GENCODE Basic
ENST00000950793.1ASPH-3054371683aaENSP00000620852.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000887944.1ASPH-2504364662aaENSP00000558003.1
 
Protein coding
--GENCODE Basic
ENST00000887969.1ASPH-2754356696aaENSP00000558028.1
 
Protein coding
--GENCODE Basic
ENST00000887951.1ASPH-2574348661aaENSP00000558010.1
 
Protein coding
--GENCODE Basic
ENST00000887968.1ASPH-2744314672aaENSP00000558027.1
 
Protein coding
--GENCODE Basic
ENST00000950788.1ASPH-3004297648aaENSP00000620847.1
 
Protein coding
--GENCODE Basic
ENST00000950790.1ASPH-3024182610aaENSP00000620849.1
 
Protein coding
--GENCODE Basic
ENST00000887958.1ASPH-2644141596aaENSP00000558017.1
 
Protein coding
--GENCODE Basic
ENST00000950791.1ASPH-3034088580aaENSP00000620850.1
 
Protein coding
--GENCODE Basic
ENST00000887957.1ASPH-2633953533aaENSP00000558016.1
 
Protein coding
--GENCODE Basic
ENST00000887967.1ASPH-2733922540aaENSP00000558026.1
 
Protein coding
--GENCODE Basic
ENST00000356457.9ASPH-2013730313aaENSP00000348841.5
 
Protein coding
CCDS43742Q12797-2 -GENCODE BasicTSL:1
ENST00000445642.6ASPH-2053717294aaENSP00000394013.4
 
Protein coding
CCDS75746Q12797-11 -GENCODE BasicTSL:2
ENST00000887965.1ASPH-2713641444aaENSP00000558024.1
 
Protein coding
--GENCODE Basic
ENST00000950798.1ASPH-3103597948aaENSP00000620857.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000517847.7ASPH-2073583299aaENSP00000429954.2
 
Protein coding
CCDS47866Q12797-8 -GENCODE BasicTSL:5
ENST00000389204.9ASPH-2043234225aaENSP00000373856.4
 
Protein coding
CCDS34900Q12797-3 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000887974.1ASPH-2803148785aaENSP00000558033.1
 
Protein coding
--GENCODE Basic
ENST00000887973.1ASPH-2793072759aaENSP00000558032.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000887971.1ASPH-2773069744aaENSP00000558030.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000887975.1ASPH-2813051759aaENSP00000558034.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000887972.1ASPH-2782953715aaENSP00000558031.1
 
Protein coding
--GENCODE Basic
ENST00000519234.5ASPH-2142874327aaENSP00000427823.1
 
Protein coding
E5RG56 -GENCODE BasicTSL:5
ENST00000518068.5ASPH-2112744270aaENSP00000429286.1
 
Protein coding
CCDS55237Q12797-6 -GENCODE BasicTSL:1
ENST00000517903.5ASPH-2092658298aaENSP00000430245.1
 
Protein coding
CCDS55236Q12797-5 -GENCODE BasicTSL:1
ENST00000541428.5ASPH-2302550729aaENSP00000437864.1
 
Protein coding
CCDS55234Q12797-10 -GENCODE BasicAPPRIS ALT2TSL:2
ENST00000887976.1ASPH-2822374555aaENSP00000558035.1
 
Protein coding
--GENCODE Basic
ENST00000379449.11ASPH-2021649203aaENSP00000368762.5
 
Protein coding
CCDS55238Q12797-7 -GENCODE PrimaryGENCODE BasicTSL:1
ENST00000522919.5ASPH-2261277163aaENSP00000430516.1
 
Protein coding
E5RJL3 -GENCODE BasicTSL:3
ENST00000522835.5ASPH-2251258256aaENSP00000429160.1
 
Protein coding
CCDS55235Q12797-9 -GENCODE BasicTSL:2
ENST00000522603.5ASPH-224842210aaENSP00000436188.1
 
Protein coding
CCDS34899Q12797-4 -GENCODE BasicTSL:1
ENST00000517661.5ASPH-206809174aaENSP00000428060.1
 
Protein coding
G3XAN5 -GENCODE BasicTSL:2
ENST00000518306.5ASPH-212755198aaENSP00000427877.1
 
Protein coding
E5RG29 -TSL:5CDS 3' incomplete
ENST00000524173.5ASPH-229587195aaENSP00000479945.1
 
Protein coding
A0A087WW51 -TSL:4CDS 5' and 3' incomplete
ENST00000523927.5ASPH-228556186aaENSP00000478706.1
 
Protein coding
A0A087WUJ2 -TSL:4CDS 5' and 3' incomplete
ENST00000519678.5ASPH-216536134aaENSP00000483443.1
 
Protein coding
A0A087X0J4 -TSL:3CDS 5' incomplete
ENST00000522349.5ASPH-223531136aaENSP00000429718.1
 
Protein coding
E5RHK2 -TSL:5CDS 3' incomplete
ENST00000519264.5ASPH-21533744aaENSP00000479830.1
 
Protein coding
A0A087WW05 -TSL:5CDS 5' incomplete
ENST00000523897.5ASPH-227871No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000517928.1ASPH-210548No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000522343.1ASPH-222329No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000521909.1ASPH-219851No protein-
 
Retained intron
--TSL:3
ENST00000518441.1ASPH-213781No protein-
 
Retained intron
--TSL:2
ENST00000522325.1ASPH-221665No protein-
 
Retained intron
--TSL:1
ENST00000522036.1ASPH-220663No protein-
 
Retained intron
--TSL:3
ENST00000520198.1ASPH-217544No protein-
 
Retained intron
--TSL:4
ENST00000521499.5ASPH-218484No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 6, Coding exons: 6, Transcript length: 3,234 bps, Translation length: 225 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q12797

CCDS

This transcript is a member of the Human CCDS set: CCDS34900

Transcript Support Level (TSL)

TSL:1

Version

ENST00000389204.9

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

GENCODE primary gene

This transcript is a member of the Gencode Primary gene set.