Canonical Allele Identifier: CA2036909509

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307548A= , CM000674.2:g.53307548A=	GRCh38
NC_000012.11:g.53701332A= , CM000674.1:g.53701332A=	GRCh37
NC_000012.10:g.51987599A=	NCBI36
NG_016775.1:g.19081T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1582T= MANE Select	ENSP00000209873.4:p.Trp528=
ENST00000546562.6:n.2646T=
ENST00000547238.6:n.2218T=
ENST00000547520.6:n.1698T=
ENST00000547757.2:c.*500T=	ENSP00000448020.2:n.*500T=
ENST00000548931.6:c.1017T=	ENSP00000457518.1:p.Leu339=
ENST00000549450.6:n.1516T=
ENST00000672797.1:n.2071T=
ENST00000209873.8:c.1582T=	ENSP00000209873.4:p.Trp528=
ENST00000394384.7:c.1483T=	ENSP00000377908.3:p.Trp495=
ENST00000548931.5:c.1017T=	ENSP00000457518.1:p.Leu339=
ENST00000550286.5:c.1210T=	ENSP00000446885.1:p.Trp404=
ENST00000552876.5:n.1925T=
NM_001173466.1:c.1483T=	NP_001166937.1:p.Trp495=
NM_015665.5:c.1582T=	NP_056480.1:p.Trp528=
XM_006719617.2:c.1597T=	XP_006719680.1:p.Trp533=
XM_011538777.1:c.1639T=	XP_011537079.1:p.Trp547=
XM_011538778.1:c.1624T=	XP_011537080.1:p.Trp542=
XM_011538779.1:c.1540T=	XP_011537081.1:p.Trp514=
XM_011538780.1:c.1525T=	XP_011537082.1:p.Trp509=
XM_011538781.1:c.973T=	XP_011537083.1:p.Trp325=
XM_011538778.2:c.1624T=	XP_011537080.1:p.Trp542=
XM_011538780.2:c.1525T=	XP_011537082.1:p.Trp509=
XR_001748875.2:n.1639T=
NM_015665.6:c.1582T= MANE Select	NP_056480.1:p.Trp528=
NM_001173466.2:c.1483T=	NP_001166937.1:p.Trp495=