Canonical Allele Identifier: CA2036910125

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308797C= , CM000674.2:g.53308797C=	GRCh38
NC_000012.11:g.53702581C= , CM000674.1:g.53702581C=	GRCh37
NC_000012.10:g.51988848C=	NCBI36
NG_016775.1:g.17832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1015G= MANE Select	ENSP00000209873.4:p.Asp339=
ENST00000546393.7:n.1860G=
ENST00000546562.6:n.2079G=
ENST00000547238.6:n.1651G=
ENST00000547520.6:n.1009G=
ENST00000547757.2:c.64G=	ENSP00000448020.2:p.Asp22=
ENST00000548880.2:n.1465G=
ENST00000548931.6:c.535G=	ENSP00000457518.1:p.Asp179=
ENST00000549450.6:n.949G=
ENST00000552161.6:n.1971G=
ENST00000672797.1:n.1504G=
ENST00000672900.1:n.1957G=
ENST00000209873.8:c.1015G=	ENSP00000209873.4:p.Asp339=
ENST00000394384.7:c.916G=	ENSP00000377908.3:p.Asp306=
ENST00000547520.5:n.719G=
ENST00000548931.5:c.535G=	ENSP00000457518.1:p.Asp179=
ENST00000550033.5:n.270G=
ENST00000550286.5:c.643G=	ENSP00000446885.1:p.Asp215=
ENST00000552876.5:n.1358G=
NM_001173466.1:c.916G=	NP_001166937.1:p.Asp306=
NM_015665.5:c.1015G=	NP_056480.1:p.Asp339=
XM_006719617.2:c.1030G=	XP_006719680.1:p.Asp344=
XM_006719619.2:c.*25G=	XP_006719682.1:n.*25G=
XM_011538777.1:c.1030G=	XP_011537079.1:p.Asp344=
XM_011538778.1:c.1015G=	XP_011537080.1:p.Asp339=
XM_011538779.1:c.931G=	XP_011537081.1:p.Asp311=
XM_011538780.1:c.916G=	XP_011537082.1:p.Asp306=
XM_011538781.1:c.364G=	XP_011537083.1:p.Asp122=
XM_011538778.2:c.1015G=	XP_011537080.1:p.Asp339=
XM_011538780.2:c.916G=	XP_011537082.1:p.Asp306=
XR_001748875.2:n.1072G=
NM_015665.6:c.1015G= MANE Select	NP_056480.1:p.Asp339=
NM_001173466.2:c.916G=	NP_001166937.1:p.Asp306=