Canonical Allele Identifier: CA2036909589

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307702T= , CM000674.2:g.53307702T=	GRCh38
NC_000012.11:g.53701486T= , CM000674.1:g.53701486T=	GRCh37
NC_000012.10:g.51987753T=	NCBI36
NG_016775.1:g.18927A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1428A= MANE Select	ENSP00000209873.4:p.Thr476=
ENST00000546562.6:n.2492A=
ENST00000547238.6:n.2064A=
ENST00000547520.6:n.1544A=
ENST00000547757.2:c.*346A=	ENSP00000448020.2:n.*346A=
ENST00000548880.2:n.1878A=
ENST00000548931.6:c.863A=	ENSP00000457518.1:p.Gln288=
ENST00000549450.6:n.1362A=
ENST00000552161.6:n.2506A=
ENST00000672797.1:n.1917A=
ENST00000209873.8:c.1428A=	ENSP00000209873.4:p.Thr476=
ENST00000394384.7:c.1329A=	ENSP00000377908.3:p.Thr443=
ENST00000548931.5:c.863A=	ENSP00000457518.1:p.Gln288=
ENST00000550286.5:c.1056A=	ENSP00000446885.1:p.Thr352=
ENST00000552876.5:n.1771A=
NM_001173466.1:c.1329A=	NP_001166937.1:p.Thr443=
NM_015665.5:c.1428A=	NP_056480.1:p.Thr476=
XM_006719617.2:c.1443A=	XP_006719680.1:p.Thr481=
XM_011538777.1:c.1485A=	XP_011537079.1:p.Thr495=
XM_011538778.1:c.1470A=	XP_011537080.1:p.Thr490=
XM_011538779.1:c.1386A=	XP_011537081.1:p.Thr462=
XM_011538780.1:c.1371A=	XP_011537082.1:p.Thr457=
XM_011538781.1:c.819A=	XP_011537083.1:p.Thr273=
XM_011538778.2:c.1470A=	XP_011537080.1:p.Thr490=
XM_011538780.2:c.1371A=	XP_011537082.1:p.Thr457=
XR_001748875.2:n.1485A=
NM_015665.6:c.1428A= MANE Select	NP_056480.1:p.Thr476=
NM_001173466.2:c.1329A=	NP_001166937.1:p.Thr443=