Canonical Allele Identifier: CA2036909489

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307510G= , CM000674.2:g.53307510G=	GRCh38
NC_000012.11:g.53701294G= , CM000674.1:g.53701294G=	GRCh37
NC_000012.10:g.51987561G=	NCBI36
NG_016775.1:g.19119C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1620C= MANE Select	ENSP00000209873.4:p.His540=
ENST00000546562.6:n.2684C=
ENST00000547757.2:c.*538C=	ENSP00000448020.2:n.*538C=
ENST00000548931.6:c.1055C=	ENSP00000457518.1:p.Thr352=
ENST00000549450.6:n.1554C=
ENST00000209873.8:c.1620C=	ENSP00000209873.4:p.His540=
ENST00000394384.7:c.1521C=	ENSP00000377908.3:p.His507=
ENST00000548931.5:c.1055C=	ENSP00000457518.1:p.Thr352=
ENST00000550286.5:c.1248C=	ENSP00000446885.1:p.His416=
ENST00000552876.5:n.1963C=
NM_001173466.1:c.1521C=	NP_001166937.1:p.His507=
NM_015665.5:c.1620C=	NP_056480.1:p.His540=
XM_006719617.2:c.1635C=	XP_006719680.1:p.His545=
XM_011538777.1:c.1677C=	XP_011537079.1:p.His559=
XM_011538778.1:c.1662C=	XP_011537080.1:p.His554=
XM_011538779.1:c.1578C=	XP_011537081.1:p.His526=
XM_011538780.1:c.1563C=	XP_011537082.1:p.His521=
XM_011538781.1:c.1011C=	XP_011537083.1:p.His337=
XM_011538778.2:c.1662C=	XP_011537080.1:p.His554=
XM_011538780.2:c.1563C=	XP_011537082.1:p.His521=
XR_001748875.2:n.1677C=
NM_015665.6:c.1620C= MANE Select	NP_056480.1:p.His540=
NM_001173466.2:c.1521C=	NP_001166937.1:p.His507=