Canonical Allele Identifier: CA2036909568

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307661T= , CM000674.2:g.53307661T=	GRCh38
NC_000012.11:g.53701445T= , CM000674.1:g.53701445T=	GRCh37
NC_000012.10:g.51987712T=	NCBI36
NG_016775.1:g.18968A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1469A= MANE Select	ENSP00000209873.4:p.Gln490=
ENST00000546562.6:n.2533A=
ENST00000547238.6:n.2105A=
ENST00000547520.6:n.1585A=
ENST00000547757.2:c.*387A=	ENSP00000448020.2:n.*387A=
ENST00000548880.2:n.1919A=
ENST00000548931.6:c.904A=	ENSP00000457518.1:p.Ser302=
ENST00000549450.6:n.1403A=
ENST00000552161.6:n.2547A=
ENST00000672797.1:n.1958A=
ENST00000209873.8:c.1469A=	ENSP00000209873.4:p.Gln490=
ENST00000394384.7:c.1370A=	ENSP00000377908.3:p.Gln457=
ENST00000548931.5:c.904A=	ENSP00000457518.1:p.Ser302=
ENST00000550286.5:c.1097A=	ENSP00000446885.1:p.Gln366=
ENST00000552876.5:n.1812A=
NM_001173466.1:c.1370A=	NP_001166937.1:p.Gln457=
NM_015665.5:c.1469A=	NP_056480.1:p.Gln490=
XM_006719617.2:c.1484A=	XP_006719680.1:p.Gln495=
XM_011538777.1:c.1526A=	XP_011537079.1:p.Gln509=
XM_011538778.1:c.1511A=	XP_011537080.1:p.Gln504=
XM_011538779.1:c.1427A=	XP_011537081.1:p.Gln476=
XM_011538780.1:c.1412A=	XP_011537082.1:p.Gln471=
XM_011538781.1:c.860A=	XP_011537083.1:p.Gln287=
XM_011538778.2:c.1511A=	XP_011537080.1:p.Gln504=
XM_011538780.2:c.1412A=	XP_011537082.1:p.Gln471=
XR_001748875.2:n.1526A=
NM_015665.6:c.1469A= MANE Select	NP_056480.1:p.Gln490=
NM_001173466.2:c.1370A=	NP_001166937.1:p.Gln457=