Canonical Allele Identifier: CA2036909538

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307612A= , CM000674.2:g.53307612A=	GRCh38
NC_000012.11:g.53701396A= , CM000674.1:g.53701396A=	GRCh37
NC_000012.10:g.51987663A=	NCBI36
NG_016775.1:g.19017T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1518T= MANE Select	ENSP00000209873.4:p.Ala506=
ENST00000546562.6:n.2582T=
ENST00000547238.6:n.2154T=
ENST00000547520.6:n.1634T=
ENST00000547757.2:c.*436T=	ENSP00000448020.2:n.*436T=
ENST00000548931.6:c.953T=	ENSP00000457518.1:p.Leu318=
ENST00000549450.6:n.1452T=
ENST00000672797.1:n.2007T=
ENST00000209873.8:c.1518T=	ENSP00000209873.4:p.Ala506=
ENST00000394384.7:c.1419T=	ENSP00000377908.3:p.Ala473=
ENST00000548931.5:c.953T=	ENSP00000457518.1:p.Leu318=
ENST00000550286.5:c.1146T=	ENSP00000446885.1:p.Ala382=
ENST00000552876.5:n.1861T=
NM_001173466.1:c.1419T=	NP_001166937.1:p.Ala473=
NM_015665.5:c.1518T=	NP_056480.1:p.Ala506=
XM_006719617.2:c.1533T=	XP_006719680.1:p.Ala511=
XM_011538777.1:c.1575T=	XP_011537079.1:p.Ala525=
XM_011538778.1:c.1560T=	XP_011537080.1:p.Ala520=
XM_011538779.1:c.1476T=	XP_011537081.1:p.Ala492=
XM_011538780.1:c.1461T=	XP_011537082.1:p.Ala487=
XM_011538781.1:c.909T=	XP_011537083.1:p.Ala303=
XM_011538778.2:c.1560T=	XP_011537080.1:p.Ala520=
XM_011538780.2:c.1461T=	XP_011537082.1:p.Ala487=
XR_001748875.2:n.1575T=
NM_015665.6:c.1518T= MANE Select	NP_056480.1:p.Ala506=
NM_001173466.2:c.1419T=	NP_001166937.1:p.Ala473=