Canonical Allele Identifier: CA2036909781

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308100A= , CM000674.2:g.53308100A=	GRCh38
NC_000012.11:g.53701884A= , CM000674.1:g.53701884A=	GRCh37
NC_000012.10:g.51988151A=	NCBI36
NG_016775.1:g.18529T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1283T= MANE Select	ENSP00000209873.4:p.Ile428=
ENST00000546562.6:n.2347T=
ENST00000547238.6:n.1919T=
ENST00000547520.6:n.1277T=
ENST00000547757.2:c.332T=	ENSP00000448020.2:p.Ile111=
ENST00000548880.2:n.1733T=
ENST00000548931.6:c.803T=	ENSP00000457518.1:p.Ile268=
ENST00000549450.6:n.1217T=
ENST00000552161.6:n.2239T=
ENST00000672797.1:n.1772T=
ENST00000672900.1:n.2373T=
ENST00000209873.8:c.1283T=	ENSP00000209873.4:p.Ile428=
ENST00000394384.7:c.1184T=	ENSP00000377908.3:p.Ile395=
ENST00000548931.5:c.803T=	ENSP00000457518.1:p.Ile268=
ENST00000550033.5:n.538T=
ENST00000550286.5:c.911T=	ENSP00000446885.1:p.Ile304=
ENST00000552876.5:n.1626T=
NM_001173466.1:c.1184T=	NP_001166937.1:p.Ile395=
NM_015665.5:c.1283T=	NP_056480.1:p.Ile428=
XM_006719617.2:c.1298T=	XP_006719680.1:p.Ile433=
XM_011538777.1:c.1298T=	XP_011537079.1:p.Ile433=
XM_011538778.1:c.1283T=	XP_011537080.1:p.Ile428=
XM_011538779.1:c.1199T=	XP_011537081.1:p.Ile400=
XM_011538780.1:c.1184T=	XP_011537082.1:p.Ile395=
XM_011538781.1:c.632T=	XP_011537083.1:p.Ile211=
XM_011538778.2:c.1283T=	XP_011537080.1:p.Ile428=
XM_011538780.2:c.1184T=	XP_011537082.1:p.Ile395=
XR_001748875.2:n.1340T=
NM_015665.6:c.1283T= MANE Select	NP_056480.1:p.Ile428=
NM_001173466.2:c.1184T=	NP_001166937.1:p.Ile395=