Canonical Allele Identifier: CA2036909584

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307695T= , CM000674.2:g.53307695T=	GRCh38
NC_000012.11:g.53701479T= , CM000674.1:g.53701479T=	GRCh37
NC_000012.10:g.51987746T=	NCBI36
NG_016775.1:g.18934A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1435A= MANE Select	ENSP00000209873.4:p.Ile479=
ENST00000546562.6:n.2499A=
ENST00000547238.6:n.2071A=
ENST00000547520.6:n.1551A=
ENST00000547757.2:c.*353A=	ENSP00000448020.2:n.*353A=
ENST00000548880.2:n.1885A=
ENST00000548931.6:c.870A=	ENSP00000457518.1:p.Glu290=
ENST00000549450.6:n.1369A=
ENST00000552161.6:n.2513A=
ENST00000672797.1:n.1924A=
ENST00000209873.8:c.1435A=	ENSP00000209873.4:p.Ile479=
ENST00000394384.7:c.1336A=	ENSP00000377908.3:p.Ile446=
ENST00000548931.5:c.870A=	ENSP00000457518.1:p.Glu290=
ENST00000550286.5:c.1063A=	ENSP00000446885.1:p.Ile355=
ENST00000552876.5:n.1778A=
NM_001173466.1:c.1336A=	NP_001166937.1:p.Ile446=
NM_015665.5:c.1435A=	NP_056480.1:p.Ile479=
XM_006719617.2:c.1450A=	XP_006719680.1:p.Ile484=
XM_011538777.1:c.1492A=	XP_011537079.1:p.Ile498=
XM_011538778.1:c.1477A=	XP_011537080.1:p.Ile493=
XM_011538779.1:c.1393A=	XP_011537081.1:p.Ile465=
XM_011538780.1:c.1378A=	XP_011537082.1:p.Ile460=
XM_011538781.1:c.826A=	XP_011537083.1:p.Ile276=
XM_011538778.2:c.1477A=	XP_011537080.1:p.Ile493=
XM_011538780.2:c.1378A=	XP_011537082.1:p.Ile460=
XR_001748875.2:n.1492A=
NM_015665.6:c.1435A= MANE Select	NP_056480.1:p.Ile479=
NM_001173466.2:c.1336A=	NP_001166937.1:p.Ile446=