Canonical Allele Identifier: CA2036909588

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307700C= , CM000674.2:g.53307700C=	GRCh38
NC_000012.11:g.53701484C= , CM000674.1:g.53701484C=	GRCh37
NC_000012.10:g.51987751C=	NCBI36
NG_016775.1:g.18929G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1430G= MANE Select	ENSP00000209873.4:p.Gly477=
ENST00000546562.6:n.2494G=
ENST00000547238.6:n.2066G=
ENST00000547520.6:n.1546G=
ENST00000547757.2:c.*348G=	ENSP00000448020.2:n.*348G=
ENST00000548880.2:n.1880G=
ENST00000548931.6:c.865G=	ENSP00000457518.1:p.Ala289=
ENST00000549450.6:n.1364G=
ENST00000552161.6:n.2508G=
ENST00000672797.1:n.1919G=
ENST00000209873.8:c.1430G=	ENSP00000209873.4:p.Gly477=
ENST00000394384.7:c.1331G=	ENSP00000377908.3:p.Gly444=
ENST00000548931.5:c.865G=	ENSP00000457518.1:p.Ala289=
ENST00000550286.5:c.1058G=	ENSP00000446885.1:p.Gly353=
ENST00000552876.5:n.1773G=
NM_001173466.1:c.1331G=	NP_001166937.1:p.Gly444=
NM_015665.5:c.1430G=	NP_056480.1:p.Gly477=
XM_006719617.2:c.1445G=	XP_006719680.1:p.Gly482=
XM_011538777.1:c.1487G=	XP_011537079.1:p.Gly496=
XM_011538778.1:c.1472G=	XP_011537080.1:p.Gly491=
XM_011538779.1:c.1388G=	XP_011537081.1:p.Gly463=
XM_011538780.1:c.1373G=	XP_011537082.1:p.Gly458=
XM_011538781.1:c.821G=	XP_011537083.1:p.Gly274=
XM_011538778.2:c.1472G=	XP_011537080.1:p.Gly491=
XM_011538780.2:c.1373G=	XP_011537082.1:p.Gly458=
XR_001748875.2:n.1487G=
NM_015665.6:c.1430G= MANE Select	NP_056480.1:p.Gly477=
NM_001173466.2:c.1331G=	NP_001166937.1:p.Gly444=