Canonical Allele Identifier: CA2036910102

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308747G= , CM000674.2:g.53308747G=	GRCh38
NC_000012.11:g.53702531G= , CM000674.1:g.53702531G=	GRCh37
NC_000012.10:g.51988798G=	NCBI36
NG_016775.1:g.17882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1065C= MANE Select	ENSP00000209873.4:p.Ser355=
ENST00000546562.6:n.2129C=
ENST00000547238.6:n.1701C=
ENST00000547520.6:n.1059C=
ENST00000547757.2:c.114C=	ENSP00000448020.2:p.Ser38=
ENST00000548880.2:n.1515C=
ENST00000548931.6:c.585C=	ENSP00000457518.1:p.Ser195=
ENST00000549450.6:n.999C=
ENST00000552161.6:n.2021C=
ENST00000672797.1:n.1554C=
ENST00000672900.1:n.2007C=
ENST00000209873.8:c.1065C=	ENSP00000209873.4:p.Ser355=
ENST00000394384.7:c.966C=	ENSP00000377908.3:p.Ser322=
ENST00000547520.5:n.769C=
ENST00000548931.5:c.585C=	ENSP00000457518.1:p.Ser195=
ENST00000550033.5:n.320C=
ENST00000550286.5:c.693C=	ENSP00000446885.1:p.Ser231=
ENST00000552876.5:n.1408C=
NM_001173466.1:c.966C=	NP_001166937.1:p.Ser322=
NM_015665.5:c.1065C=	NP_056480.1:p.Ser355=
XM_006719617.2:c.1080C=	XP_006719680.1:p.Ser360=
XM_011538777.1:c.1080C=	XP_011537079.1:p.Ser360=
XM_011538778.1:c.1065C=	XP_011537080.1:p.Ser355=
XM_011538779.1:c.981C=	XP_011537081.1:p.Ser327=
XM_011538780.1:c.966C=	XP_011537082.1:p.Ser322=
XM_011538781.1:c.414C=	XP_011537083.1:p.Ser138=
XM_011538778.2:c.1065C=	XP_011537080.1:p.Ser355=
XM_011538780.2:c.966C=	XP_011537082.1:p.Ser322=
XR_001748875.2:n.1122C=
NM_015665.6:c.1065C= MANE Select	NP_056480.1:p.Ser355=
NM_001173466.2:c.966C=	NP_001166937.1:p.Ser322=