Canonical Allele Identifier: CA479918422

Gene: AAAS

Linked Data

• dbSNP Id: rs1944336637
• MyVariant Identifiers: chr12:g.53702537A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308753A>T , CM000674.2:g.53308753A>T	GRCh38
NC_000012.11:g.53702537A>T , CM000674.1:g.53702537A>T	GRCh37
NC_000012.10:g.51988804A>T	NCBI36
NG_016775.1:g.17876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1059T>A MANE Select	ENSP00000209873.4:p.Ile353=
ENST00000546562.6:n.2123T>A
ENST00000547238.6:n.1695T>A
ENST00000547520.6:n.1053T>A
ENST00000547757.2:c.108T>A	ENSP00000448020.2:p.Ile36=
ENST00000548880.2:n.1509T>A
ENST00000548931.6:c.579T>A	ENSP00000457518.1:p.Ile193=
ENST00000549450.6:n.993T>A
ENST00000552161.6:n.2015T>A
ENST00000672797.1:n.1548T>A
ENST00000672900.1:n.2001T>A
ENST00000209873.8:c.1059T>A	ENSP00000209873.4:p.Ile353=
ENST00000394384.7:c.960T>A	ENSP00000377908.3:p.Ile320=
ENST00000547520.5:n.763T>A
ENST00000548931.5:c.579T>A	ENSP00000457518.1:p.Ile193=
ENST00000550033.5:n.314T>A
ENST00000550286.5:c.687T>A	ENSP00000446885.1:p.Ile229=
ENST00000552876.5:n.1402T>A
NM_001173466.1:c.960T>A	NP_001166937.1:p.Ile320=
NM_015665.5:c.1059T>A	NP_056480.1:p.Ile353=
XM_006719617.2:c.1074T>A	XP_006719680.1:p.Ile358=
XM_011538777.1:c.1074T>A	XP_011537079.1:p.Ile358=
XM_011538778.1:c.1059T>A	XP_011537080.1:p.Ile353=
XM_011538779.1:c.975T>A	XP_011537081.1:p.Ile325=
XM_011538780.1:c.960T>A	XP_011537082.1:p.Ile320=
XM_011538781.1:c.408T>A	XP_011537083.1:p.Ile136=
XM_011538778.2:c.1059T>A	XP_011537080.1:p.Ile353=
XM_011538780.2:c.960T>A	XP_011537082.1:p.Ile320=
XR_001748875.2:n.1116T>A
NM_015665.6:c.1059T>A MANE Select	NP_056480.1:p.Ile353=
NM_001173466.2:c.960T>A	NP_001166937.1:p.Ile320=