Canonical Allele Identifier: CA2036909549

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307632G= , CM000674.2:g.53307632G=	GRCh38
NC_000012.11:g.53701416G= , CM000674.1:g.53701416G=	GRCh37
NC_000012.10:g.51987683G=	NCBI36
NG_016775.1:g.18997C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1498C= MANE Select	ENSP00000209873.4:p.Arg500=
ENST00000546562.6:n.2562C=
ENST00000547238.6:n.2134C=
ENST00000547520.6:n.1614C=
ENST00000547757.2:c.*416C=	ENSP00000448020.2:n.*416C=
ENST00000548931.6:c.933C=	ENSP00000457518.1:p.Gly311=
ENST00000549450.6:n.1432C=
ENST00000672797.1:n.1987C=
ENST00000209873.8:c.1498C=	ENSP00000209873.4:p.Arg500=
ENST00000394384.7:c.1399C=	ENSP00000377908.3:p.Arg467=
ENST00000548931.5:c.933C=	ENSP00000457518.1:p.Gly311=
ENST00000550286.5:c.1126C=	ENSP00000446885.1:p.Arg376=
ENST00000552876.5:n.1841C=
NM_001173466.1:c.1399C=	NP_001166937.1:p.Arg467=
NM_015665.5:c.1498C=	NP_056480.1:p.Arg500=
XM_006719617.2:c.1513C=	XP_006719680.1:p.Arg505=
XM_011538777.1:c.1555C=	XP_011537079.1:p.Arg519=
XM_011538778.1:c.1540C=	XP_011537080.1:p.Arg514=
XM_011538779.1:c.1456C=	XP_011537081.1:p.Arg486=
XM_011538780.1:c.1441C=	XP_011537082.1:p.Arg481=
XM_011538781.1:c.889C=	XP_011537083.1:p.Arg297=
XM_011538778.2:c.1540C=	XP_011537080.1:p.Arg514=
XM_011538780.2:c.1441C=	XP_011537082.1:p.Arg481=
XR_001748875.2:n.1555C=
NM_015665.6:c.1498C= MANE Select	NP_056480.1:p.Arg500=
NM_001173466.2:c.1399C=	NP_001166937.1:p.Arg467=