Canonical Allele Identifier: CA385035248

Gene: AAAS

Linked Data

• dbSNP Id: rs1374953481
• gnomAD v4: 12-53307605-C-T
• MyVariant Identifiers: chr12:g.53701389C>T (hg19) ; chr12:g.53307605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307605C>T , CM000674.2:g.53307605C>T	GRCh38
NC_000012.11:g.53701389C>T , CM000674.1:g.53701389C>T	GRCh37
NC_000012.10:g.51987656C>T	NCBI36
NG_016775.1:g.19024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1525G>A MANE Select	ENSP00000209873.4:p.Gly509Arg
ENST00000546562.6:n.2589G>A
ENST00000547238.6:n.2161G>A
ENST00000547520.6:n.1641G>A
ENST00000547757.2:c.*443G>A	ENSP00000448020.2:n.*443G>A
ENST00000548931.6:c.960G>A	ENSP00000457518.1:p.Val320=
ENST00000549450.6:n.1459G>A
ENST00000672797.1:n.2014G>A
ENST00000209873.8:c.1525G>A	ENSP00000209873.4:p.Gly509Arg
ENST00000394384.7:c.1426G>A	ENSP00000377908.3:p.Gly476Arg
ENST00000548931.5:c.960G>A	ENSP00000457518.1:p.Val320=
ENST00000550286.5:c.1153G>A	ENSP00000446885.1:p.Gly385Arg
ENST00000552876.5:n.1868G>A
NM_001173466.1:c.1426G>A	NP_001166937.1:p.Gly476Arg
NM_015665.5:c.1525G>A	NP_056480.1:p.Gly509Arg
XM_006719617.2:c.1540G>A	XP_006719680.1:p.Gly514Arg
XM_011538777.1:c.1582G>A	XP_011537079.1:p.Gly528Arg
XM_011538778.1:c.1567G>A	XP_011537080.1:p.Gly523Arg
XM_011538779.1:c.1483G>A	XP_011537081.1:p.Gly495Arg
XM_011538780.1:c.1468G>A	XP_011537082.1:p.Gly490Arg
XM_011538781.1:c.916G>A	XP_011537083.1:p.Gly306Arg
XM_011538778.2:c.1567G>A	XP_011537080.1:p.Gly523Arg
XM_011538780.2:c.1468G>A	XP_011537082.1:p.Gly490Arg
XR_001748875.2:n.1582G>A
NM_015665.6:c.1525G>A MANE Select	NP_056480.1:p.Gly509Arg
NM_001173466.2:c.1426G>A	NP_001166937.1:p.Gly476Arg