Canonical Allele Identifier: CA385035261

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701391C>A (hg19) ; chr12:g.53307607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307607C>A , CM000674.2:g.53307607C>A	GRCh38
NC_000012.11:g.53701391C>A , CM000674.1:g.53701391C>A	GRCh37
NC_000012.10:g.51987658C>A	NCBI36
NG_016775.1:g.19022G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1523G>T MANE Select	ENSP00000209873.4:p.Gly508Val
ENST00000546562.6:n.2587G>T
ENST00000547238.6:n.2159G>T
ENST00000547520.6:n.1639G>T
ENST00000547757.2:c.*441G>T	ENSP00000448020.2:n.*441G>T
ENST00000548931.6:c.958G>T	ENSP00000457518.1:p.Val320Leu
ENST00000549450.6:n.1457G>T
ENST00000672797.1:n.2012G>T
ENST00000209873.8:c.1523G>T	ENSP00000209873.4:p.Gly508Val
ENST00000394384.7:c.1424G>T	ENSP00000377908.3:p.Gly475Val
ENST00000548931.5:c.958G>T	ENSP00000457518.1:p.Val320Leu
ENST00000550286.5:c.1151G>T	ENSP00000446885.1:p.Gly384Val
ENST00000552876.5:n.1866G>T
NM_001173466.1:c.1424G>T	NP_001166937.1:p.Gly475Val
NM_015665.5:c.1523G>T	NP_056480.1:p.Gly508Val
XM_006719617.2:c.1538G>T	XP_006719680.1:p.Gly513Val
XM_011538777.1:c.1580G>T	XP_011537079.1:p.Gly527Val
XM_011538778.1:c.1565G>T	XP_011537080.1:p.Gly522Val
XM_011538779.1:c.1481G>T	XP_011537081.1:p.Gly494Val
XM_011538780.1:c.1466G>T	XP_011537082.1:p.Gly489Val
XM_011538781.1:c.914G>T	XP_011537083.1:p.Gly305Val
XM_011538778.2:c.1565G>T	XP_011537080.1:p.Gly522Val
XM_011538780.2:c.1466G>T	XP_011537082.1:p.Gly489Val
XR_001748875.2:n.1580G>T
NM_015665.6:c.1523G>T MANE Select	NP_056480.1:p.Gly508Val
NM_001173466.2:c.1424G>T	NP_001166937.1:p.Gly475Val