Canonical Allele Identifier: CA2036909551

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307635C= , CM000674.2:g.53307635C=	GRCh38
NC_000012.11:g.53701419C= , CM000674.1:g.53701419C=	GRCh37
NC_000012.10:g.51987686C=	NCBI36
NG_016775.1:g.18994G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1495G= MANE Select	ENSP00000209873.4:p.Gly499=
ENST00000546562.6:n.2559G=
ENST00000547238.6:n.2131G=
ENST00000547520.6:n.1611G=
ENST00000547757.2:c.*413G=	ENSP00000448020.2:n.*413G=
ENST00000548931.6:c.930G=	ENSP00000457518.1:p.Leu310=
ENST00000549450.6:n.1429G=
ENST00000672797.1:n.1984G=
ENST00000209873.8:c.1495G=	ENSP00000209873.4:p.Gly499=
ENST00000394384.7:c.1396G=	ENSP00000377908.3:p.Gly466=
ENST00000548931.5:c.930G=	ENSP00000457518.1:p.Leu310=
ENST00000550286.5:c.1123G=	ENSP00000446885.1:p.Gly375=
ENST00000552876.5:n.1838G=
NM_001173466.1:c.1396G=	NP_001166937.1:p.Gly466=
NM_015665.5:c.1495G=	NP_056480.1:p.Gly499=
XM_006719617.2:c.1510G=	XP_006719680.1:p.Gly504=
XM_011538777.1:c.1552G=	XP_011537079.1:p.Gly518=
XM_011538778.1:c.1537G=	XP_011537080.1:p.Gly513=
XM_011538779.1:c.1453G=	XP_011537081.1:p.Gly485=
XM_011538780.1:c.1438G=	XP_011537082.1:p.Gly480=
XM_011538781.1:c.886G=	XP_011537083.1:p.Gly296=
XM_011538778.2:c.1537G=	XP_011537080.1:p.Gly513=
XM_011538780.2:c.1438G=	XP_011537082.1:p.Gly480=
XR_001748875.2:n.1552G=
NM_015665.6:c.1495G= MANE Select	NP_056480.1:p.Gly499=
NM_001173466.2:c.1396G=	NP_001166937.1:p.Gly466=