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Human (GRCh38.p14)
Description

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

Gene Synonyms

BAH, CASQ2BP1, HAAH, JCTN

Location

Chromosome 8: 61,500,549-61,714,768 reverse strand.

GRCh38:CM000670.2

About this gene

This gene has 110 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 3 phenotypes.

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