Gene: AAAS ENSG00000094914

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.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000209873.4	AAAS-001	1840	546aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8856	D9DBT1 D9DBT3 Q9NRG9	NM_015665.5	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000394384.3	AAAS-002	1703	513aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53797	D9DBT1 D9DBT3 F8VUB6 Q9NRG9	NM_001173466.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000550286.1	AAAS-004	1652	422aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D9DBT1 D9DBT3 F8VZ44	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000548931.1	AAAS-020	1075	358aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D9DBT1 D9DBT3 H3BU82	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000547757.1	AAAS-012	949	277aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VUB6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000549983.1	AAAS-021	860	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000547761.2	AAAS-010	827	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000549821.1	AAAS-011	596	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000549450.1	AAAS-009	581	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000551724.1	AAAS-016	552	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000548258.1	AAAS-015	550	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000552876.1	AAAS-003	2016	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000547238.1	AAAS-018	1154	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000550033.1	AAAS-019	900	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000546393.2	AAAS-013	832	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000547520.1	AAAS-022	769	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000546562.1	AAAS-005	627	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000552161.1	AAAS-023	585	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000546572.1	AAAS-014	582	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000548880.1	AAAS-017	577	No protein	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Splice variants

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Gene: AAAS ENSG00000094914

Splice variants