Canonical Allele Identifier: CA2036909559

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307649A= , CM000674.2:g.53307649A=	GRCh38
NC_000012.11:g.53701433A= , CM000674.1:g.53701433A=	GRCh37
NC_000012.10:g.51987700A=	NCBI36
NG_016775.1:g.18980T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1481T= MANE Select	ENSP00000209873.4:p.Phe494=
ENST00000546562.6:n.2545T=
ENST00000547238.6:n.2117T=
ENST00000547520.6:n.1597T=
ENST00000547757.2:c.*399T=	ENSP00000448020.2:n.*399T=
ENST00000548880.2:n.1931T=
ENST00000548931.6:c.916T=	ENSP00000457518.1:p.Leu306=
ENST00000549450.6:n.1415T=
ENST00000552161.6:n.2559T=
ENST00000672797.1:n.1970T=
ENST00000209873.8:c.1481T=	ENSP00000209873.4:p.Phe494=
ENST00000394384.7:c.1382T=	ENSP00000377908.3:p.Phe461=
ENST00000548931.5:c.916T=	ENSP00000457518.1:p.Leu306=
ENST00000550286.5:c.1109T=	ENSP00000446885.1:p.Phe370=
ENST00000552876.5:n.1824T=
NM_001173466.1:c.1382T=	NP_001166937.1:p.Phe461=
NM_015665.5:c.1481T=	NP_056480.1:p.Phe494=
XM_006719617.2:c.1496T=	XP_006719680.1:p.Phe499=
XM_011538777.1:c.1538T=	XP_011537079.1:p.Phe513=
XM_011538778.1:c.1523T=	XP_011537080.1:p.Phe508=
XM_011538779.1:c.1439T=	XP_011537081.1:p.Phe480=
XM_011538780.1:c.1424T=	XP_011537082.1:p.Phe475=
XM_011538781.1:c.872T=	XP_011537083.1:p.Phe291=
XM_011538778.2:c.1523T=	XP_011537080.1:p.Phe508=
XM_011538780.2:c.1424T=	XP_011537082.1:p.Phe475=
XR_001748875.2:n.1538T=
NM_015665.6:c.1481T= MANE Select	NP_056480.1:p.Phe494=
NM_001173466.2:c.1382T=	NP_001166937.1:p.Phe461=