Canonical Allele Identifier: CA2036910106

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308754A= , CM000674.2:g.53308754A=	GRCh38
NC_000012.11:g.53702538A= , CM000674.1:g.53702538A=	GRCh37
NC_000012.10:g.51988805A=	NCBI36
NG_016775.1:g.17875T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1058T= MANE Select	ENSP00000209873.4:p.Ile353=
ENST00000546562.6:n.2122T=
ENST00000547238.6:n.1694T=
ENST00000547520.6:n.1052T=
ENST00000547757.2:c.107T=	ENSP00000448020.2:p.Ile36=
ENST00000548880.2:n.1508T=
ENST00000548931.6:c.578T=	ENSP00000457518.1:p.Ile193=
ENST00000549450.6:n.992T=
ENST00000552161.6:n.2014T=
ENST00000672797.1:n.1547T=
ENST00000672900.1:n.2000T=
ENST00000209873.8:c.1058T=	ENSP00000209873.4:p.Ile353=
ENST00000394384.7:c.959T=	ENSP00000377908.3:p.Ile320=
ENST00000547520.5:n.762T=
ENST00000548931.5:c.578T=	ENSP00000457518.1:p.Ile193=
ENST00000550033.5:n.313T=
ENST00000550286.5:c.686T=	ENSP00000446885.1:p.Ile229=
ENST00000552876.5:n.1401T=
NM_001173466.1:c.959T=	NP_001166937.1:p.Ile320=
NM_015665.5:c.1058T=	NP_056480.1:p.Ile353=
XM_006719617.2:c.1073T=	XP_006719680.1:p.Ile358=
XM_011538777.1:c.1073T=	XP_011537079.1:p.Ile358=
XM_011538778.1:c.1058T=	XP_011537080.1:p.Ile353=
XM_011538779.1:c.974T=	XP_011537081.1:p.Ile325=
XM_011538780.1:c.959T=	XP_011537082.1:p.Ile320=
XM_011538781.1:c.407T=	XP_011537083.1:p.Ile136=
XM_011538778.2:c.1058T=	XP_011537080.1:p.Ile353=
XM_011538780.2:c.959T=	XP_011537082.1:p.Ile320=
XR_001748875.2:n.1115T=
NM_015665.6:c.1058T= MANE Select	NP_056480.1:p.Ile353=
NM_001173466.2:c.959T=	NP_001166937.1:p.Ile320=