Canonical Allele Identifier: CA2036909582

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307691G= , CM000674.2:g.53307691G=	GRCh38
NC_000012.11:g.53701475G= , CM000674.1:g.53701475G=	GRCh37
NC_000012.10:g.51987742G=	NCBI36
NG_016775.1:g.18938C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1439C= MANE Select	ENSP00000209873.4:p.Ala480=
ENST00000546562.6:n.2503C=
ENST00000547238.6:n.2075C=
ENST00000547520.6:n.1555C=
ENST00000547757.2:c.*357C=	ENSP00000448020.2:n.*357C=
ENST00000548880.2:n.1889C=
ENST00000548931.6:c.874C=	ENSP00000457518.1:p.Pro292=
ENST00000549450.6:n.1373C=
ENST00000552161.6:n.2517C=
ENST00000672797.1:n.1928C=
ENST00000209873.8:c.1439C=	ENSP00000209873.4:p.Ala480=
ENST00000394384.7:c.1340C=	ENSP00000377908.3:p.Ala447=
ENST00000548931.5:c.874C=	ENSP00000457518.1:p.Pro292=
ENST00000550286.5:c.1067C=	ENSP00000446885.1:p.Ala356=
ENST00000552876.5:n.1782C=
NM_001173466.1:c.1340C=	NP_001166937.1:p.Ala447=
NM_015665.5:c.1439C=	NP_056480.1:p.Ala480=
XM_006719617.2:c.1454C=	XP_006719680.1:p.Ala485=
XM_011538777.1:c.1496C=	XP_011537079.1:p.Ala499=
XM_011538778.1:c.1481C=	XP_011537080.1:p.Ala494=
XM_011538779.1:c.1397C=	XP_011537081.1:p.Ala466=
XM_011538780.1:c.1382C=	XP_011537082.1:p.Ala461=
XM_011538781.1:c.830C=	XP_011537083.1:p.Ala277=
XM_011538778.2:c.1481C=	XP_011537080.1:p.Ala494=
XM_011538780.2:c.1382C=	XP_011537082.1:p.Ala461=
XR_001748875.2:n.1496C=
NM_015665.6:c.1439C= MANE Select	NP_056480.1:p.Ala480=
NM_001173466.2:c.1340C=	NP_001166937.1:p.Ala447=