Canonical Allele Identifier: CA479918560

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702774C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308990C>T , CM000674.2:g.53308990C>T	GRCh38
NC_000012.11:g.53702774C>T , CM000674.1:g.53702774C>T	GRCh37
NC_000012.10:g.51989041C>T	NCBI36
NG_016775.1:g.17639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.966G>A MANE Select	ENSP00000209873.4:p.Glu322=
ENST00000546393.7:n.1811G>A
ENST00000546562.6:n.2030G>A
ENST00000547238.6:n.1602G>A
ENST00000547520.6:n.960G>A
ENST00000547757.2:c.15G>A	ENSP00000448020.2:p.Glu5=
ENST00000548880.2:n.1416G>A
ENST00000548931.6:c.486G>A	ENSP00000457518.1:p.Glu162=
ENST00000549450.6:n.900G>A
ENST00000552161.6:n.1922G>A
ENST00000672797.1:n.1419G>A
ENST00000672900.1:n.1764G>A
ENST00000209873.8:c.966G>A	ENSP00000209873.4:p.Glu322=
ENST00000394384.7:c.867G>A	ENSP00000377908.3:p.Glu289=
ENST00000546572.1:n.554G>A
ENST00000547520.5:n.670G>A
ENST00000548931.5:c.486G>A	ENSP00000457518.1:p.Glu162=
ENST00000550033.5:n.221G>A
ENST00000550286.5:c.594G>A	ENSP00000446885.1:p.Glu198=
ENST00000552876.5:n.1309G>A
NM_001173466.1:c.867G>A	NP_001166937.1:p.Glu289=
NM_015665.5:c.966G>A	NP_056480.1:p.Glu322=
XM_006719617.2:c.981G>A	XP_006719680.1:p.Glu327=
XM_006719619.2:c.981G>A	XP_006719682.1:p.Glu327=
XM_011538777.1:c.981G>A	XP_011537079.1:p.Glu327=
XM_011538778.1:c.966G>A	XP_011537080.1:p.Glu322=
XM_011538779.1:c.882G>A	XP_011537081.1:p.Glu294=
XM_011538780.1:c.867G>A	XP_011537082.1:p.Glu289=
XM_011538781.1:c.315G>A	XP_011537083.1:p.Glu105=
XM_011538778.2:c.966G>A	XP_011537080.1:p.Glu322=
XM_011538780.2:c.867G>A	XP_011537082.1:p.Glu289=
XR_001748875.2:n.987G>A
NM_015665.6:c.966G>A MANE Select	NP_056480.1:p.Glu322=
NM_001173466.2:c.867G>A	NP_001166937.1:p.Glu289=