Canonical Allele Identifier: CA2036909585

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307697C= , CM000674.2:g.53307697C=	GRCh38
NC_000012.11:g.53701481C= , CM000674.1:g.53701481C=	GRCh37
NC_000012.10:g.51987748C=	NCBI36
NG_016775.1:g.18932G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1433G= MANE Select	ENSP00000209873.4:p.Arg478=
ENST00000546562.6:n.2497G=
ENST00000547238.6:n.2069G=
ENST00000547520.6:n.1549G=
ENST00000547757.2:c.*351G=	ENSP00000448020.2:n.*351G=
ENST00000548880.2:n.1883G=
ENST00000548931.6:c.868G=	ENSP00000457518.1:p.Glu290=
ENST00000549450.6:n.1367G=
ENST00000552161.6:n.2511G=
ENST00000672797.1:n.1922G=
ENST00000209873.8:c.1433G=	ENSP00000209873.4:p.Arg478=
ENST00000394384.7:c.1334G=	ENSP00000377908.3:p.Arg445=
ENST00000548931.5:c.868G=	ENSP00000457518.1:p.Glu290=
ENST00000550286.5:c.1061G=	ENSP00000446885.1:p.Arg354=
ENST00000552876.5:n.1776G=
NM_001173466.1:c.1334G=	NP_001166937.1:p.Arg445=
NM_015665.5:c.1433G=	NP_056480.1:p.Arg478=
XM_006719617.2:c.1448G=	XP_006719680.1:p.Arg483=
XM_011538777.1:c.1490G=	XP_011537079.1:p.Arg497=
XM_011538778.1:c.1475G=	XP_011537080.1:p.Arg492=
XM_011538779.1:c.1391G=	XP_011537081.1:p.Arg464=
XM_011538780.1:c.1376G=	XP_011537082.1:p.Arg459=
XM_011538781.1:c.824G=	XP_011537083.1:p.Arg275=
XM_011538778.2:c.1475G=	XP_011537080.1:p.Arg492=
XM_011538780.2:c.1376G=	XP_011537082.1:p.Arg459=
XR_001748875.2:n.1490G=
NM_015665.6:c.1433G= MANE Select	NP_056480.1:p.Arg478=
NM_001173466.2:c.1334G=	NP_001166937.1:p.Arg445=