Canonical Allele Identifier: CA2036910116

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308777G= , CM000674.2:g.53308777G=	GRCh38
NC_000012.11:g.53702561G= , CM000674.1:g.53702561G=	GRCh37
NC_000012.10:g.51988828G=	NCBI36
NG_016775.1:g.17852C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1035C= MANE Select	ENSP00000209873.4:p.Phe345=
ENST00000546393.7:n.1880C=
ENST00000546562.6:n.2099C=
ENST00000547238.6:n.1671C=
ENST00000547520.6:n.1029C=
ENST00000547757.2:c.84C=	ENSP00000448020.2:p.Phe28=
ENST00000548880.2:n.1485C=
ENST00000548931.6:c.555C=	ENSP00000457518.1:p.Phe185=
ENST00000549450.6:n.969C=
ENST00000552161.6:n.1991C=
ENST00000672797.1:n.1524C=
ENST00000672900.1:n.1977C=
ENST00000209873.8:c.1035C=	ENSP00000209873.4:p.Phe345=
ENST00000394384.7:c.936C=	ENSP00000377908.3:p.Phe312=
ENST00000547520.5:n.739C=
ENST00000548931.5:c.555C=	ENSP00000457518.1:p.Phe185=
ENST00000550033.5:n.290C=
ENST00000550286.5:c.663C=	ENSP00000446885.1:p.Phe221=
ENST00000552876.5:n.1378C=
NM_001173466.1:c.936C=	NP_001166937.1:p.Phe312=
NM_015665.5:c.1035C=	NP_056480.1:p.Phe345=
XM_006719617.2:c.1050C=	XP_006719680.1:p.Phe350=
XM_006719619.2:c.*45C=	XP_006719682.1:n.*45C=
XM_011538777.1:c.1050C=	XP_011537079.1:p.Phe350=
XM_011538778.1:c.1035C=	XP_011537080.1:p.Phe345=
XM_011538779.1:c.951C=	XP_011537081.1:p.Phe317=
XM_011538780.1:c.936C=	XP_011537082.1:p.Phe312=
XM_011538781.1:c.384C=	XP_011537083.1:p.Phe128=
XM_011538778.2:c.1035C=	XP_011537080.1:p.Phe345=
XM_011538780.2:c.936C=	XP_011537082.1:p.Phe312=
XR_001748875.2:n.1092C=
NM_015665.6:c.1035C= MANE Select	NP_056480.1:p.Phe345=
NM_001173466.2:c.936C=	NP_001166937.1:p.Phe312=