Canonical Allele Identifier: CA385041443

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702796T>G (hg19) ; chr12:g.53309012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309012T>G , CM000674.2:g.53309012T>G	GRCh38
NC_000012.11:g.53702796T>G , CM000674.1:g.53702796T>G	GRCh37
NC_000012.10:g.51989063T>G	NCBI36
NG_016775.1:g.17617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.944A>C MANE Select	ENSP00000209873.4:p.Glu315Ala
ENST00000546393.7:n.1789A>C
ENST00000546562.6:n.2008A>C
ENST00000547238.6:n.1580A>C
ENST00000547520.6:n.938A>C
ENST00000547757.2:c.-8A>C	ENSP00000448020.2:n.-8A>C
ENST00000548880.2:n.1394A>C
ENST00000548931.6:c.464A>C	ENSP00000457518.1:p.Glu155Ala
ENST00000549450.6:n.878A>C
ENST00000552161.6:n.1900A>C
ENST00000672797.1:n.1397A>C
ENST00000672900.1:n.1742A>C
ENST00000209873.8:c.944A>C	ENSP00000209873.4:p.Glu315Ala
ENST00000394384.7:c.845A>C	ENSP00000377908.3:p.Glu282Ala
ENST00000546572.1:n.532A>C
ENST00000547520.5:n.648A>C
ENST00000548931.5:c.464A>C	ENSP00000457518.1:p.Glu155Ala
ENST00000550033.5:n.199A>C
ENST00000550286.5:c.572A>C	ENSP00000446885.1:p.Glu191Ala
ENST00000552876.5:n.1287A>C
NM_001173466.1:c.845A>C	NP_001166937.1:p.Glu282Ala
NM_015665.5:c.944A>C	NP_056480.1:p.Glu315Ala
XM_006719617.2:c.959A>C	XP_006719680.1:p.Glu320Ala
XM_006719619.2:c.959A>C	XP_006719682.1:p.Glu320Ala
XM_011538777.1:c.959A>C	XP_011537079.1:p.Glu320Ala
XM_011538778.1:c.944A>C	XP_011537080.1:p.Glu315Ala
XM_011538779.1:c.860A>C	XP_011537081.1:p.Glu287Ala
XM_011538780.1:c.845A>C	XP_011537082.1:p.Glu282Ala
XM_011538781.1:c.293A>C	XP_011537083.1:p.Glu98Ala
XM_011538778.2:c.944A>C	XP_011537080.1:p.Glu315Ala
XM_011538780.2:c.845A>C	XP_011537082.1:p.Glu282Ala
XR_001748875.2:n.965A>C
NM_015665.6:c.944A>C MANE Select	NP_056480.1:p.Glu315Ala
NM_001173466.2:c.845A>C	NP_001166937.1:p.Glu282Ala