Canonical Allele Identifier: CA2036909783

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308103A= , CM000674.2:g.53308103A=	GRCh38
NC_000012.11:g.53701887A= , CM000674.1:g.53701887A=	GRCh37
NC_000012.10:g.51988154A=	NCBI36
NG_016775.1:g.18526T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1280T= MANE Select	ENSP00000209873.4:p.Val427=
ENST00000546562.6:n.2344T=
ENST00000547238.6:n.1916T=
ENST00000547520.6:n.1274T=
ENST00000547757.2:c.329T=	ENSP00000448020.2:p.Val110=
ENST00000548880.2:n.1730T=
ENST00000548931.6:c.800T=	ENSP00000457518.1:p.Val267=
ENST00000549450.6:n.1214T=
ENST00000552161.6:n.2236T=
ENST00000672797.1:n.1769T=
ENST00000672900.1:n.2370T=
ENST00000209873.8:c.1280T=	ENSP00000209873.4:p.Val427=
ENST00000394384.7:c.1181T=	ENSP00000377908.3:p.Val394=
ENST00000548931.5:c.800T=	ENSP00000457518.1:p.Val267=
ENST00000550033.5:n.535T=
ENST00000550286.5:c.908T=	ENSP00000446885.1:p.Val303=
ENST00000552876.5:n.1623T=
NM_001173466.1:c.1181T=	NP_001166937.1:p.Val394=
NM_015665.5:c.1280T=	NP_056480.1:p.Val427=
XM_006719617.2:c.1295T=	XP_006719680.1:p.Val432=
XM_011538777.1:c.1295T=	XP_011537079.1:p.Val432=
XM_011538778.1:c.1280T=	XP_011537080.1:p.Val427=
XM_011538779.1:c.1196T=	XP_011537081.1:p.Val399=
XM_011538780.1:c.1181T=	XP_011537082.1:p.Val394=
XM_011538781.1:c.629T=	XP_011537083.1:p.Val210=
XM_011538778.2:c.1280T=	XP_011537080.1:p.Val427=
XM_011538780.2:c.1181T=	XP_011537082.1:p.Val394=
XR_001748875.2:n.1337T=
NM_015665.6:c.1280T= MANE Select	NP_056480.1:p.Val427=
NM_001173466.2:c.1181T=	NP_001166937.1:p.Val394=