Canonical Allele Identifier: CA2036909501

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307533C= , CM000674.2:g.53307533C=	GRCh38
NC_000012.11:g.53701317C= , CM000674.1:g.53701317C=	GRCh37
NC_000012.10:g.51987584C=	NCBI36
NG_016775.1:g.19096G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1597G= MANE Select	ENSP00000209873.4:p.Gly533=
ENST00000546562.6:n.2661G=
ENST00000547238.6:n.2233G=
ENST00000547757.2:c.*515G=	ENSP00000448020.2:n.*515G=
ENST00000548931.6:c.1032G=	ENSP00000457518.1:p.Gln344=
ENST00000549450.6:n.1531G=
ENST00000672797.1:n.2086G=
ENST00000209873.8:c.1597G=	ENSP00000209873.4:p.Gly533=
ENST00000394384.7:c.1498G=	ENSP00000377908.3:p.Gly500=
ENST00000548931.5:c.1032G=	ENSP00000457518.1:p.Gln344=
ENST00000550286.5:c.1225G=	ENSP00000446885.1:p.Gly409=
ENST00000552876.5:n.1940G=
NM_001173466.1:c.1498G=	NP_001166937.1:p.Gly500=
NM_015665.5:c.1597G=	NP_056480.1:p.Gly533=
XM_006719617.2:c.1612G=	XP_006719680.1:p.Gly538=
XM_011538777.1:c.1654G=	XP_011537079.1:p.Gly552=
XM_011538778.1:c.1639G=	XP_011537080.1:p.Gly547=
XM_011538779.1:c.1555G=	XP_011537081.1:p.Gly519=
XM_011538780.1:c.1540G=	XP_011537082.1:p.Gly514=
XM_011538781.1:c.988G=	XP_011537083.1:p.Gly330=
XM_011538778.2:c.1639G=	XP_011537080.1:p.Gly547=
XM_011538780.2:c.1540G=	XP_011537082.1:p.Gly514=
XR_001748875.2:n.1654G=
NM_015665.6:c.1597G= MANE Select	NP_056480.1:p.Gly533=
NM_001173466.2:c.1498G=	NP_001166937.1:p.Gly500=