Human (GRCh37.p13)
Description

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

Gene Synonyms

AAA, AAASb, ADRACALA, ADRACALIN, ALADIN

Location

Chromosome 12: 53,701,240-53,718,648 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 20 transcripts (splice variants) and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000209873.4AAAS-0011840546aaENSP00000209873.4
 
Protein coding
CCDS8856D9DBT1 D9DBT3 Q9NRG9
NM_015665.5GENCODE basic
ENST00000394384.3AAAS-0021703513aaENSP00000377908.3
 
Protein coding
CCDS53797D9DBT1 D9DBT3 F8VUB6
Q9NRG9
NM_001173466.1GENCODE basic
ENST00000550286.1AAAS-0041652422aaENSP00000446885.1
 
Protein coding
D9DBT1 D9DBT3 F8VZ44
-GENCODE basic
ENST00000548931.1AAAS-0201075358aaENSP00000457518.1
 
Protein coding
D9DBT1 D9DBT3 H3BU82
-CDS 5' and 3' incomplete
ENST00000547757.1AAAS-012949277aaENSP00000448020.1
 
Protein coding
F8VUB6 -CDS 3' incomplete
ENST00000549983.1AAAS-021860No protein-
 
Processed transcript
---
ENST00000547761.2AAAS-010827No protein-
 
Processed transcript
---
ENST00000549821.1AAAS-011596No protein-
 
Processed transcript
---
ENST00000549450.1AAAS-009581No protein-
 
Processed transcript
---
ENST00000551724.1AAAS-016552No protein-
 
Processed transcript
---
ENST00000548258.1AAAS-015550No protein-
 
Processed transcript
---
ENST00000552876.1AAAS-0032016No protein-
 
Retained intron
---
ENST00000547238.1AAAS-0181154No protein-
 
Retained intron
---
ENST00000550033.1AAAS-019900No protein-
 
Retained intron
---
ENST00000546393.2AAAS-013832No protein-
 
Retained intron
---
ENST00000547520.1AAAS-022769No protein-
 
Retained intron
---
ENST00000546562.1AAAS-005627No protein-
 
Retained intron
---
ENST00000552161.1AAAS-023585No protein-
 
Retained intron
---
ENST00000546572.1AAAS-014582No protein-
 
Retained intron
---
ENST00000548880.1AAAS-017577No protein-
 
Retained intron
---