Canonical Allele Identifier: CA385040708

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702580T>G (hg19) ; chr12:g.53308796T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308796T>G , CM000674.2:g.53308796T>G	GRCh38
NC_000012.11:g.53702580T>G , CM000674.1:g.53702580T>G	GRCh37
NC_000012.10:g.51988847T>G	NCBI36
NG_016775.1:g.17833A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1016A>C MANE Select	ENSP00000209873.4:p.Asp339Ala
ENST00000546393.7:n.1861A>C
ENST00000546562.6:n.2080A>C
ENST00000547238.6:n.1652A>C
ENST00000547520.6:n.1010A>C
ENST00000547757.2:c.65A>C	ENSP00000448020.2:p.Asp22Ala
ENST00000548880.2:n.1466A>C
ENST00000548931.6:c.536A>C	ENSP00000457518.1:p.Asp179Ala
ENST00000549450.6:n.950A>C
ENST00000552161.6:n.1972A>C
ENST00000672797.1:n.1505A>C
ENST00000672900.1:n.1958A>C
ENST00000209873.8:c.1016A>C	ENSP00000209873.4:p.Asp339Ala
ENST00000394384.7:c.917A>C	ENSP00000377908.3:p.Asp306Ala
ENST00000547520.5:n.720A>C
ENST00000548931.5:c.536A>C	ENSP00000457518.1:p.Asp179Ala
ENST00000550033.5:n.271A>C
ENST00000550286.5:c.644A>C	ENSP00000446885.1:p.Asp215Ala
ENST00000552876.5:n.1359A>C
NM_001173466.1:c.917A>C	NP_001166937.1:p.Asp306Ala
NM_015665.5:c.1016A>C	NP_056480.1:p.Asp339Ala
XM_006719617.2:c.1031A>C	XP_006719680.1:p.Asp344Ala
XM_006719619.2:c.*26A>C	XP_006719682.1:n.*26A>C
XM_011538777.1:c.1031A>C	XP_011537079.1:p.Asp344Ala
XM_011538778.1:c.1016A>C	XP_011537080.1:p.Asp339Ala
XM_011538779.1:c.932A>C	XP_011537081.1:p.Asp311Ala
XM_011538780.1:c.917A>C	XP_011537082.1:p.Asp306Ala
XM_011538781.1:c.365A>C	XP_011537083.1:p.Asp122Ala
XM_011538778.2:c.1016A>C	XP_011537080.1:p.Asp339Ala
XM_011538780.2:c.917A>C	XP_011537082.1:p.Asp306Ala
XR_001748875.2:n.1073A>C
NM_015665.6:c.1016A>C MANE Select	NP_056480.1:p.Asp339Ala
NM_001173466.2:c.917A>C	NP_001166937.1:p.Asp306Ala