Canonical Allele Identifier: CA2036910122

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308788G= , CM000674.2:g.53308788G=	GRCh38
NC_000012.11:g.53702572G= , CM000674.1:g.53702572G=	GRCh37
NC_000012.10:g.51988839G=	NCBI36
NG_016775.1:g.17841C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1024C= MANE Select	ENSP00000209873.4:p.Arg342=
ENST00000546393.7:n.1869C=
ENST00000546562.6:n.2088C=
ENST00000547238.6:n.1660C=
ENST00000547520.6:n.1018C=
ENST00000547757.2:c.73C=	ENSP00000448020.2:p.Arg25=
ENST00000548880.2:n.1474C=
ENST00000548931.6:c.544C=	ENSP00000457518.1:p.Arg182=
ENST00000549450.6:n.958C=
ENST00000552161.6:n.1980C=
ENST00000672797.1:n.1513C=
ENST00000672900.1:n.1966C=
ENST00000209873.8:c.1024C=	ENSP00000209873.4:p.Arg342=
ENST00000394384.7:c.925C=	ENSP00000377908.3:p.Arg309=
ENST00000547520.5:n.728C=
ENST00000548931.5:c.544C=	ENSP00000457518.1:p.Arg182=
ENST00000550033.5:n.279C=
ENST00000550286.5:c.652C=	ENSP00000446885.1:p.Arg218=
ENST00000552876.5:n.1367C=
NM_001173466.1:c.925C=	NP_001166937.1:p.Arg309=
NM_015665.5:c.1024C=	NP_056480.1:p.Arg342=
XM_006719617.2:c.1039C=	XP_006719680.1:p.Arg347=
XM_006719619.2:c.*34C=	XP_006719682.1:n.*34C=
XM_011538777.1:c.1039C=	XP_011537079.1:p.Arg347=
XM_011538778.1:c.1024C=	XP_011537080.1:p.Arg342=
XM_011538779.1:c.940C=	XP_011537081.1:p.Arg314=
XM_011538780.1:c.925C=	XP_011537082.1:p.Arg309=
XM_011538781.1:c.373C=	XP_011537083.1:p.Arg125=
XM_011538778.2:c.1024C=	XP_011537080.1:p.Arg342=
XM_011538780.2:c.925C=	XP_011537082.1:p.Arg309=
XR_001748875.2:n.1081C=
NM_015665.6:c.1024C= MANE Select	NP_056480.1:p.Arg342=
NM_001173466.2:c.925C=	NP_001166937.1:p.Arg309=