Canonical Allele Identifier: CA2036910088

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308728A= , CM000674.2:g.53308728A=	GRCh38
NC_000012.11:g.53702512A= , CM000674.1:g.53702512A=	GRCh37
NC_000012.10:g.51988779A=	NCBI36
NG_016775.1:g.17901T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1084T= MANE Select	ENSP00000209873.4:p.Cys362=
ENST00000546562.6:n.2148T=
ENST00000547238.6:n.1720T=
ENST00000547520.6:n.1078T=
ENST00000547757.2:c.133T=	ENSP00000448020.2:p.Cys45=
ENST00000548880.2:n.1534T=
ENST00000548931.6:c.604T=	ENSP00000457518.1:p.Cys202=
ENST00000549450.6:n.1018T=
ENST00000552161.6:n.2040T=
ENST00000672797.1:n.1573T=
ENST00000672900.1:n.2026T=
ENST00000209873.8:c.1084T=	ENSP00000209873.4:p.Cys362=
ENST00000394384.7:c.985T=	ENSP00000377908.3:p.Cys329=
ENST00000548931.5:c.604T=	ENSP00000457518.1:p.Cys202=
ENST00000550033.5:n.339T=
ENST00000550286.5:c.712T=	ENSP00000446885.1:p.Cys238=
ENST00000552876.5:n.1427T=
NM_001173466.1:c.985T=	NP_001166937.1:p.Cys329=
NM_015665.5:c.1084T=	NP_056480.1:p.Cys362=
XM_006719617.2:c.1099T=	XP_006719680.1:p.Cys367=
XM_011538777.1:c.1099T=	XP_011537079.1:p.Cys367=
XM_011538778.1:c.1084T=	XP_011537080.1:p.Cys362=
XM_011538779.1:c.1000T=	XP_011537081.1:p.Cys334=
XM_011538780.1:c.985T=	XP_011537082.1:p.Cys329=
XM_011538781.1:c.433T=	XP_011537083.1:p.Cys145=
XM_011538778.2:c.1084T=	XP_011537080.1:p.Cys362=
XM_011538780.2:c.985T=	XP_011537082.1:p.Cys329=
XR_001748875.2:n.1141T=
NM_015665.6:c.1084T= MANE Select	NP_056480.1:p.Cys362=
NM_001173466.2:c.985T=	NP_001166937.1:p.Cys329=