Canonical Allele Identifier: CA2036909561

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307652C= , CM000674.2:g.53307652C=	GRCh38
NC_000012.11:g.53701436C= , CM000674.1:g.53701436C=	GRCh37
NC_000012.10:g.51987703C=	NCBI36
NG_016775.1:g.18977G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1478G= MANE Select	ENSP00000209873.4:p.Arg493=
ENST00000546562.6:n.2542G=
ENST00000547238.6:n.2114G=
ENST00000547520.6:n.1594G=
ENST00000547757.2:c.*396G=	ENSP00000448020.2:n.*396G=
ENST00000548880.2:n.1928G=
ENST00000548931.6:c.913G=	ENSP00000457518.1:p.Val305=
ENST00000549450.6:n.1412G=
ENST00000552161.6:n.2556G=
ENST00000672797.1:n.1967G=
ENST00000209873.8:c.1478G=	ENSP00000209873.4:p.Arg493=
ENST00000394384.7:c.1379G=	ENSP00000377908.3:p.Arg460=
ENST00000548931.5:c.913G=	ENSP00000457518.1:p.Val305=
ENST00000550286.5:c.1106G=	ENSP00000446885.1:p.Arg369=
ENST00000552876.5:n.1821G=
NM_001173466.1:c.1379G=	NP_001166937.1:p.Arg460=
NM_015665.5:c.1478G=	NP_056480.1:p.Arg493=
XM_006719617.2:c.1493G=	XP_006719680.1:p.Arg498=
XM_011538777.1:c.1535G=	XP_011537079.1:p.Arg512=
XM_011538778.1:c.1520G=	XP_011537080.1:p.Arg507=
XM_011538779.1:c.1436G=	XP_011537081.1:p.Arg479=
XM_011538780.1:c.1421G=	XP_011537082.1:p.Arg474=
XM_011538781.1:c.869G=	XP_011537083.1:p.Arg290=
XM_011538778.2:c.1520G=	XP_011537080.1:p.Arg507=
XM_011538780.2:c.1421G=	XP_011537082.1:p.Arg474=
XR_001748875.2:n.1535G=
NM_015665.6:c.1478G= MANE Select	NP_056480.1:p.Arg493=
NM_001173466.2:c.1379G=	NP_001166937.1:p.Arg460=