Canonical Allele Identifier: CA2036909482

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307490T= , CM000674.2:g.53307490T=	GRCh38
NC_000012.11:g.53701274T= , CM000674.1:g.53701274T=	GRCh37
NC_000012.10:g.51987541T=	NCBI36
NG_016775.1:g.19139A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1640A= MANE Select	ENSP00000209873.4:p.Ter547=
ENST00000547757.2:c.*558A=	ENSP00000448020.2:n.*558A=
ENST00000548931.6:c.1075A=	ENSP00000457518.1:p.Lys359=
ENST00000549450.6:n.1574A=
ENST00000209873.8:c.1640A=	ENSP00000209873.4:p.Ter547=
ENST00000394384.7:c.1541A=	ENSP00000377908.3:p.Ter514=
ENST00000548931.5:c.1075A=
ENST00000550286.5:c.1268A=	ENSP00000446885.1:p.Ter423=
ENST00000552876.5:n.1983A=
NM_001173466.1:c.1541A=	NP_001166937.1:p.Ter514=
NM_015665.5:c.1640A=	NP_056480.1:p.Ter547=
XM_006719617.2:c.1655A=	XP_006719680.1:p.Ter552=
XM_011538777.1:c.1697A=	XP_011537079.1:p.Ter566=
XM_011538778.1:c.1682A=	XP_011537080.1:p.Ter561=
XM_011538779.1:c.1598A=	XP_011537081.1:p.Ter533=
XM_011538780.1:c.1583A=	XP_011537082.1:p.Ter528=
XM_011538781.1:c.1031A=	XP_011537083.1:p.Ter344=
XM_011538778.2:c.1682A=	XP_011537080.1:p.Ter561=
XM_011538780.2:c.1583A=	XP_011537082.1:p.Ter528=
XR_001748875.2:n.1697A=
NM_015665.6:c.1640A= MANE Select	NP_056480.1:p.Ter547=
NM_001173466.2:c.1541A=	NP_001166937.1:p.Ter514=