Canonical Allele Identifier: CA2036909516

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307560T= , CM000674.2:g.53307560T=	GRCh38
NC_000012.11:g.53701344T= , CM000674.1:g.53701344T=	GRCh37
NC_000012.10:g.51987611T=	NCBI36
NG_016775.1:g.19069A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1570A= MANE Select	ENSP00000209873.4:p.Thr524=
ENST00000546562.6:n.2634A=
ENST00000547238.6:n.2206A=
ENST00000547520.6:n.1686A=
ENST00000547757.2:c.*488A=	ENSP00000448020.2:n.*488A=
ENST00000548931.6:c.1005A=	ENSP00000457518.1:p.Gln335=
ENST00000549450.6:n.1504A=
ENST00000672797.1:n.2059A=
ENST00000209873.8:c.1570A=	ENSP00000209873.4:p.Thr524=
ENST00000394384.7:c.1471A=	ENSP00000377908.3:p.Thr491=
ENST00000548931.5:c.1005A=	ENSP00000457518.1:p.Gln335=
ENST00000550286.5:c.1198A=	ENSP00000446885.1:p.Thr400=
ENST00000552876.5:n.1913A=
NM_001173466.1:c.1471A=	NP_001166937.1:p.Thr491=
NM_015665.5:c.1570A=	NP_056480.1:p.Thr524=
XM_006719617.2:c.1585A=	XP_006719680.1:p.Thr529=
XM_011538777.1:c.1627A=	XP_011537079.1:p.Thr543=
XM_011538778.1:c.1612A=	XP_011537080.1:p.Thr538=
XM_011538779.1:c.1528A=	XP_011537081.1:p.Thr510=
XM_011538780.1:c.1513A=	XP_011537082.1:p.Thr505=
XM_011538781.1:c.961A=	XP_011537083.1:p.Thr321=
XM_011538778.2:c.1612A=	XP_011537080.1:p.Thr538=
XM_011538780.2:c.1513A=	XP_011537082.1:p.Thr505=
XR_001748875.2:n.1627A=
NM_015665.6:c.1570A= MANE Select	NP_056480.1:p.Thr524=
NM_001173466.2:c.1471A=	NP_001166937.1:p.Thr491=