Canonical Allele Identifier: CA2036909562

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307653G= , CM000674.2:g.53307653G=	GRCh38
NC_000012.11:g.53701437G= , CM000674.1:g.53701437G=	GRCh37
NC_000012.10:g.51987704G=	NCBI36
NG_016775.1:g.18976C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1477C= MANE Select	ENSP00000209873.4:p.Arg493=
ENST00000546562.6:n.2541C=
ENST00000547238.6:n.2113C=
ENST00000547520.6:n.1593C=
ENST00000547757.2:c.*395C=	ENSP00000448020.2:n.*395C=
ENST00000548880.2:n.1927C=
ENST00000548931.6:c.912C=	ENSP00000457518.1:p.His304=
ENST00000549450.6:n.1411C=
ENST00000552161.6:n.2555C=
ENST00000672797.1:n.1966C=
ENST00000209873.8:c.1477C=	ENSP00000209873.4:p.Arg493=
ENST00000394384.7:c.1378C=	ENSP00000377908.3:p.Arg460=
ENST00000548931.5:c.912C=	ENSP00000457518.1:p.His304=
ENST00000550286.5:c.1105C=	ENSP00000446885.1:p.Arg369=
ENST00000552876.5:n.1820C=
NM_001173466.1:c.1378C=	NP_001166937.1:p.Arg460=
NM_015665.5:c.1477C=	NP_056480.1:p.Arg493=
XM_006719617.2:c.1492C=	XP_006719680.1:p.Arg498=
XM_011538777.1:c.1534C=	XP_011537079.1:p.Arg512=
XM_011538778.1:c.1519C=	XP_011537080.1:p.Arg507=
XM_011538779.1:c.1435C=	XP_011537081.1:p.Arg479=
XM_011538780.1:c.1420C=	XP_011537082.1:p.Arg474=
XM_011538781.1:c.868C=	XP_011537083.1:p.Arg290=
XM_011538778.2:c.1519C=	XP_011537080.1:p.Arg507=
XM_011538780.2:c.1420C=	XP_011537082.1:p.Arg474=
XR_001748875.2:n.1534C=
NM_015665.6:c.1477C= MANE Select	NP_056480.1:p.Arg493=
NM_001173466.2:c.1378C=	NP_001166937.1:p.Arg460=