Description

achalasia, adrenocortical insufficiency, alacrimia [Source:HGNC Symbol;Acc:HGNC:13666]

Location

Chromosome 12: 53,307,456-53,324,864 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 20 transcripts (splice variants), 68 orthologues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
AAAS-001ENST000002098731840546aaENSP00000209873
 
Protein coding
CCDS8856Q9NRG9 NM_015665
NP_056480
TSL:1GENCODE basicAPPRIS P1
AAAS-002ENST000003943841703513aaENSP00000377908
 
Protein coding
CCDS53797Q9NRG9 NM_001173466
NP_001166937
TSL:1GENCODE basic
AAAS-004ENST000005502861652422aaENSP00000446885
 
Protein coding
-F8VZ44 -TSL:5GENCODE basic
AAAS-020ENST000005489311075358aaENSP00000457518
 
Protein coding
-H3BU82 -CDS 5' and 3' incompleteTSL:5
AAAS-012ENST00000547757949277aaENSP00000448020
 
Protein coding
-F8VUB6 -CDS 3' incompleteTSL:2
AAAS-021ENST00000549983860No protein-
 
Processed transcript
---TSL:3
AAAS-010ENST00000547761827No protein-
 
Processed transcript
---TSL:5
AAAS-011ENST00000549821596No protein-
 
Processed transcript
---TSL:3
AAAS-009ENST00000549450581No protein-
 
Processed transcript
---TSL:5
AAAS-016ENST00000551724552No protein-
 
Processed transcript
---TSL:4
AAAS-015ENST00000548258550No protein-
 
Processed transcript
---TSL:5
AAAS-003ENST000005528762016No protein-
 
Retained intron
---TSL:2
AAAS-018ENST000005472381154No protein-
 
Retained intron
---TSL:2
AAAS-019ENST00000550033900No protein-
 
Retained intron
---TSL:3
AAAS-013ENST00000546393832No protein-
 
Retained intron
---TSL:5
AAAS-022ENST00000547520769No protein-
 
Retained intron
---TSL:3
AAAS-005ENST00000546562627No protein-
 
Retained intron
---TSL:2
AAAS-023ENST00000552161585No protein-
 
Retained intron
---TSL:2
AAAS-014ENST00000546572582No protein-
 
Retained intron
---TSL:2
AAAS-017ENST00000548880577No protein-
 
Retained intron
---TSL:2

Gene-based displays