Canonical Allele Identifier: CA2036910306

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309166G= , CM000674.2:g.53309166G=	GRCh38
NC_000012.11:g.53702950G= , CM000674.1:g.53702950G=	GRCh37
NC_000012.10:g.51989217G=	NCBI36
NG_016775.1:g.17463C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.926C= MANE Select	ENSP00000209873.4:p.Ala309=
ENST00000546393.7:n.1771C=
ENST00000546562.6:n.1990C=
ENST00000547238.6:n.1562C=
ENST00000547520.6:n.920C=
ENST00000547757.2:c.-26C=	ENSP00000448020.2:n.-26C=
ENST00000548880.2:n.1376C=
ENST00000548931.6:c.446C=	ENSP00000457518.1:p.Ala149=
ENST00000549450.6:n.860C=
ENST00000552161.6:n.1882C=
ENST00000672797.1:n.1379C=
ENST00000672900.1:n.1724C=
ENST00000209873.8:c.926C=	ENSP00000209873.4:p.Ala309=
ENST00000394384.7:c.827C=	ENSP00000377908.3:p.Ala276=
ENST00000546393.6:n.823C=
ENST00000546572.1:n.378C=
ENST00000547520.5:n.630C=
ENST00000547757.1:c.827C=	ENSP00000448020.1:p.Ala276=
ENST00000547761.6:n.818C=
ENST00000548931.5:c.446C=	ENSP00000457518.1:p.Ala149=
ENST00000550033.5:n.181C=
ENST00000550286.5:c.554C=	ENSP00000446885.1:p.Ala185=
ENST00000552876.5:n.1269C=
NM_001173466.1:c.827C=	NP_001166937.1:p.Ala276=
NM_015665.5:c.926C=	NP_056480.1:p.Ala309=
XM_006719617.2:c.941C=	XP_006719680.1:p.Ala314=
XM_006719619.2:c.941C=	XP_006719682.1:p.Ala314=
XM_011538777.1:c.941C=	XP_011537079.1:p.Ala314=
XM_011538778.1:c.926C=	XP_011537080.1:p.Ala309=
XM_011538779.1:c.842C=	XP_011537081.1:p.Ala281=
XM_011538780.1:c.827C=	XP_011537082.1:p.Ala276=
XM_011538781.1:c.275C=	XP_011537083.1:p.Ala92=
XM_011538778.2:c.926C=	XP_011537080.1:p.Ala309=
XM_011538780.2:c.827C=	XP_011537082.1:p.Ala276=
XR_001748875.2:n.947C=
NM_015665.6:c.926C= MANE Select	NP_056480.1:p.Ala309=
NM_001173466.2:c.827C=	NP_001166937.1:p.Ala276=