Canonical Allele Identifier: CA2036909514

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307553G= , CM000674.2:g.53307553G=	GRCh38
NC_000012.11:g.53701337G= , CM000674.1:g.53701337G=	GRCh37
NC_000012.10:g.51987604G=	NCBI36
NG_016775.1:g.19076C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1577C= MANE Select	ENSP00000209873.4:p.Ala526=
ENST00000546562.6:n.2641C=
ENST00000547238.6:n.2213C=
ENST00000547520.6:n.1693C=
ENST00000547757.2:c.*495C=	ENSP00000448020.2:n.*495C=
ENST00000548931.6:c.1012C=	ENSP00000457518.1:p.Pro338=
ENST00000549450.6:n.1511C=
ENST00000672797.1:n.2066C=
ENST00000209873.8:c.1577C=	ENSP00000209873.4:p.Ala526=
ENST00000394384.7:c.1478C=	ENSP00000377908.3:p.Ala493=
ENST00000548931.5:c.1012C=	ENSP00000457518.1:p.Pro338=
ENST00000550286.5:c.1205C=	ENSP00000446885.1:p.Ala402=
ENST00000552876.5:n.1920C=
NM_001173466.1:c.1478C=	NP_001166937.1:p.Ala493=
NM_015665.5:c.1577C=	NP_056480.1:p.Ala526=
XM_006719617.2:c.1592C=	XP_006719680.1:p.Ala531=
XM_011538777.1:c.1634C=	XP_011537079.1:p.Ala545=
XM_011538778.1:c.1619C=	XP_011537080.1:p.Ala540=
XM_011538779.1:c.1535C=	XP_011537081.1:p.Ala512=
XM_011538780.1:c.1520C=	XP_011537082.1:p.Ala507=
XM_011538781.1:c.968C=	XP_011537083.1:p.Ala323=
XM_011538778.2:c.1619C=	XP_011537080.1:p.Ala540=
XM_011538780.2:c.1520C=	XP_011537082.1:p.Ala507=
XR_001748875.2:n.1634C=
NM_015665.6:c.1577C= MANE Select	NP_056480.1:p.Ala526=
NM_001173466.2:c.1478C=	NP_001166937.1:p.Ala493=