Canonical Allele Identifier: CA2036910115

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308773C= , CM000674.2:g.53308773C=	GRCh38
NC_000012.11:g.53702557C= , CM000674.1:g.53702557C=	GRCh37
NC_000012.10:g.51988824C=	NCBI36
NG_016775.1:g.17856G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1039G= MANE Select	ENSP00000209873.4:p.Val347=
ENST00000546562.6:n.2103G=
ENST00000547238.6:n.1675G=
ENST00000547520.6:n.1033G=
ENST00000547757.2:c.88G=	ENSP00000448020.2:p.Val30=
ENST00000548880.2:n.1489G=
ENST00000548931.6:c.559G=	ENSP00000457518.1:p.Val187=
ENST00000549450.6:n.973G=
ENST00000552161.6:n.1995G=
ENST00000672797.1:n.1528G=
ENST00000672900.1:n.1981G=
ENST00000209873.8:c.1039G=	ENSP00000209873.4:p.Val347=
ENST00000394384.7:c.940G=	ENSP00000377908.3:p.Val314=
ENST00000547520.5:n.743G=
ENST00000548931.5:c.559G=	ENSP00000457518.1:p.Val187=
ENST00000550033.5:n.294G=
ENST00000550286.5:c.667G=	ENSP00000446885.1:p.Val223=
ENST00000552876.5:n.1382G=
NM_001173466.1:c.940G=	NP_001166937.1:p.Val314=
NM_015665.5:c.1039G=	NP_056480.1:p.Val347=
XM_006719617.2:c.1054G=	XP_006719680.1:p.Val352=
XM_006719619.2:c.*49G=	XP_006719682.1:n.*49G=
XM_011538777.1:c.1054G=	XP_011537079.1:p.Val352=
XM_011538778.1:c.1039G=	XP_011537080.1:p.Val347=
XM_011538779.1:c.955G=	XP_011537081.1:p.Val319=
XM_011538780.1:c.940G=	XP_011537082.1:p.Val314=
XM_011538781.1:c.388G=	XP_011537083.1:p.Val130=
XM_011538778.2:c.1039G=	XP_011537080.1:p.Val347=
XM_011538780.2:c.940G=	XP_011537082.1:p.Val314=
XR_001748875.2:n.1096G=
NM_015665.6:c.1039G= MANE Select	NP_056480.1:p.Val347=
NM_001173466.2:c.940G=	NP_001166937.1:p.Val314=