Canonical Allele Identifier: CA2036909572

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307667T= , CM000674.2:g.53307667T=	GRCh38
NC_000012.11:g.53701451T= , CM000674.1:g.53701451T=	GRCh37
NC_000012.10:g.51987718T=	NCBI36
NG_016775.1:g.18962A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1463A= MANE Select	ENSP00000209873.4:p.Asn488=
ENST00000546562.6:n.2527A=
ENST00000547238.6:n.2099A=
ENST00000547520.6:n.1579A=
ENST00000547757.2:c.*381A=	ENSP00000448020.2:n.*381A=
ENST00000548880.2:n.1913A=
ENST00000548931.6:c.898A=	ENSP00000457518.1:p.Met300=
ENST00000549450.6:n.1397A=
ENST00000552161.6:n.2541A=
ENST00000672797.1:n.1952A=
ENST00000209873.8:c.1463A=	ENSP00000209873.4:p.Asn488=
ENST00000394384.7:c.1364A=	ENSP00000377908.3:p.Asn455=
ENST00000548931.5:c.898A=	ENSP00000457518.1:p.Met300=
ENST00000550286.5:c.1091A=	ENSP00000446885.1:p.Asn364=
ENST00000552876.5:n.1806A=
NM_001173466.1:c.1364A=	NP_001166937.1:p.Asn455=
NM_015665.5:c.1463A=	NP_056480.1:p.Asn488=
XM_006719617.2:c.1478A=	XP_006719680.1:p.Asn493=
XM_011538777.1:c.1520A=	XP_011537079.1:p.Asn507=
XM_011538778.1:c.1505A=	XP_011537080.1:p.Asn502=
XM_011538779.1:c.1421A=	XP_011537081.1:p.Asn474=
XM_011538780.1:c.1406A=	XP_011537082.1:p.Asn469=
XM_011538781.1:c.854A=	XP_011537083.1:p.Asn285=
XM_011538778.2:c.1505A=	XP_011537080.1:p.Asn502=
XM_011538780.2:c.1406A=	XP_011537082.1:p.Asn469=
XR_001748875.2:n.1520A=
NM_015665.6:c.1463A= MANE Select	NP_056480.1:p.Asn488=
NM_001173466.2:c.1364A=	NP_001166937.1:p.Asn455=