Canonical Allele Identifier: CA2036909484

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307495G= , CM000674.2:g.53307495G=	GRCh38
NC_000012.11:g.53701279G= , CM000674.1:g.53701279G=	GRCh37
NC_000012.10:g.51987546G=	NCBI36
NG_016775.1:g.19134C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1635C= MANE Select	ENSP00000209873.4:p.His545=
ENST00000547757.2:c.*553C=	ENSP00000448020.2:n.*553C=
ENST00000548931.6:c.1070C=	ENSP00000457518.1:p.Thr357=
ENST00000549450.6:n.1569C=
ENST00000209873.8:c.1635C=	ENSP00000209873.4:p.His545=
ENST00000394384.7:c.1536C=	ENSP00000377908.3:p.His512=
ENST00000548931.5:c.1070C=	ENSP00000457518.1:p.Thr357=
ENST00000550286.5:c.1263C=	ENSP00000446885.1:p.His421=
ENST00000552876.5:n.1978C=
NM_001173466.1:c.1536C=	NP_001166937.1:p.His512=
NM_015665.5:c.1635C=	NP_056480.1:p.His545=
XM_006719617.2:c.1650C=	XP_006719680.1:p.His550=
XM_011538777.1:c.1692C=	XP_011537079.1:p.His564=
XM_011538778.1:c.1677C=	XP_011537080.1:p.His559=
XM_011538779.1:c.1593C=	XP_011537081.1:p.His531=
XM_011538780.1:c.1578C=	XP_011537082.1:p.His526=
XM_011538781.1:c.1026C=	XP_011537083.1:p.His342=
XM_011538778.2:c.1677C=	XP_011537080.1:p.His559=
XM_011538780.2:c.1578C=	XP_011537082.1:p.His526=
XR_001748875.2:n.1692C=
NM_015665.6:c.1635C= MANE Select	NP_056480.1:p.His545=
NM_001173466.2:c.1536C=	NP_001166937.1:p.His512=