Canonical Allele Identifier: CA2036909577

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307680G= , CM000674.2:g.53307680G=	GRCh38
NC_000012.11:g.53701464G= , CM000674.1:g.53701464G=	GRCh37
NC_000012.10:g.51987731G=	NCBI36
NG_016775.1:g.18949C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1450C= MANE Select	ENSP00000209873.4:p.Leu484=
ENST00000546562.6:n.2514C=
ENST00000547238.6:n.2086C=
ENST00000547520.6:n.1566C=
ENST00000547757.2:c.*368C=	ENSP00000448020.2:n.*368C=
ENST00000548880.2:n.1900C=
ENST00000548931.6:c.885C=	ENSP00000457518.1:p.Arg295=
ENST00000549450.6:n.1384C=
ENST00000552161.6:n.2528C=
ENST00000672797.1:n.1939C=
ENST00000209873.8:c.1450C=	ENSP00000209873.4:p.Leu484=
ENST00000394384.7:c.1351C=	ENSP00000377908.3:p.Leu451=
ENST00000548931.5:c.885C=	ENSP00000457518.1:p.Arg295=
ENST00000550286.5:c.1078C=	ENSP00000446885.1:p.Leu360=
ENST00000552876.5:n.1793C=
NM_001173466.1:c.1351C=	NP_001166937.1:p.Leu451=
NM_015665.5:c.1450C=	NP_056480.1:p.Leu484=
XM_006719617.2:c.1465C=	XP_006719680.1:p.Leu489=
XM_011538777.1:c.1507C=	XP_011537079.1:p.Leu503=
XM_011538778.1:c.1492C=	XP_011537080.1:p.Leu498=
XM_011538779.1:c.1408C=	XP_011537081.1:p.Leu470=
XM_011538780.1:c.1393C=	XP_011537082.1:p.Leu465=
XM_011538781.1:c.841C=	XP_011537083.1:p.Leu281=
XM_011538778.2:c.1492C=	XP_011537080.1:p.Leu498=
XM_011538780.2:c.1393C=	XP_011537082.1:p.Leu465=
XR_001748875.2:n.1507C=
NM_015665.6:c.1450C= MANE Select	NP_056480.1:p.Leu484=
NM_001173466.2:c.1351C=	NP_001166937.1:p.Leu451=