Canonical Allele Identifier: CA2036910221

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308984C= , CM000674.2:g.53308984C=	GRCh38
NC_000012.11:g.53702768C= , CM000674.1:g.53702768C=	GRCh37
NC_000012.10:g.51989035C=	NCBI36
NG_016775.1:g.17645G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.972G= MANE Select	ENSP00000209873.4:p.Trp324=
ENST00000546393.7:n.1817G=
ENST00000546562.6:n.2036G=
ENST00000547238.6:n.1608G=
ENST00000547520.6:n.966G=
ENST00000547757.2:c.21G=	ENSP00000448020.2:p.Trp7=
ENST00000548880.2:n.1422G=
ENST00000548931.6:c.492G=	ENSP00000457518.1:p.Trp164=
ENST00000549450.6:n.906G=
ENST00000552161.6:n.1928G=
ENST00000672797.1:n.1425G=
ENST00000672900.1:n.1770G=
ENST00000209873.8:c.972G=	ENSP00000209873.4:p.Trp324=
ENST00000394384.7:c.873G=	ENSP00000377908.3:p.Trp291=
ENST00000546572.1:n.560G=
ENST00000547520.5:n.676G=
ENST00000548931.5:c.492G=	ENSP00000457518.1:p.Trp164=
ENST00000550033.5:n.227G=
ENST00000550286.5:c.600G=	ENSP00000446885.1:p.Trp200=
ENST00000552876.5:n.1315G=
NM_001173466.1:c.873G=	NP_001166937.1:p.Trp291=
NM_015665.5:c.972G=	NP_056480.1:p.Trp324=
XM_006719617.2:c.987G=	XP_006719680.1:p.Trp329=
XM_006719619.2:c.987G=	XP_006719682.1:p.Trp329=
XM_011538777.1:c.987G=	XP_011537079.1:p.Trp329=
XM_011538778.1:c.972G=	XP_011537080.1:p.Trp324=
XM_011538779.1:c.888G=	XP_011537081.1:p.Trp296=
XM_011538780.1:c.873G=	XP_011537082.1:p.Trp291=
XM_011538781.1:c.321G=	XP_011537083.1:p.Trp107=
XM_011538778.2:c.972G=	XP_011537080.1:p.Trp324=
XM_011538780.2:c.873G=	XP_011537082.1:p.Trp291=
XR_001748875.2:n.993G=
NM_015665.6:c.972G= MANE Select	NP_056480.1:p.Trp324=
NM_001173466.2:c.873G=	NP_001166937.1:p.Trp291=