Canonical Allele Identifier: CA2036909487

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307499G= , CM000674.2:g.53307499G=	GRCh38
NC_000012.11:g.53701283G= , CM000674.1:g.53701283G=	GRCh37
NC_000012.10:g.51987550G=	NCBI36
NG_016775.1:g.19130C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1631C= MANE Select	ENSP00000209873.4:p.Ser544=
ENST00000547757.2:c.*549C=	ENSP00000448020.2:n.*549C=
ENST00000548931.6:c.1066C=	ENSP00000457518.1:p.Pro356=
ENST00000549450.6:n.1565C=
ENST00000209873.8:c.1631C=	ENSP00000209873.4:p.Ser544=
ENST00000394384.7:c.1532C=	ENSP00000377908.3:p.Ser511=
ENST00000548931.5:c.1066C=	ENSP00000457518.1:p.Pro356=
ENST00000550286.5:c.1259C=	ENSP00000446885.1:p.Ser420=
ENST00000552876.5:n.1974C=
NM_001173466.1:c.1532C=	NP_001166937.1:p.Ser511=
NM_015665.5:c.1631C=	NP_056480.1:p.Ser544=
XM_006719617.2:c.1646C=	XP_006719680.1:p.Ser549=
XM_011538777.1:c.1688C=	XP_011537079.1:p.Ser563=
XM_011538778.1:c.1673C=	XP_011537080.1:p.Ser558=
XM_011538779.1:c.1589C=	XP_011537081.1:p.Ser530=
XM_011538780.1:c.1574C=	XP_011537082.1:p.Ser525=
XM_011538781.1:c.1022C=	XP_011537083.1:p.Ser341=
XM_011538778.2:c.1673C=	XP_011537080.1:p.Ser558=
XM_011538780.2:c.1574C=	XP_011537082.1:p.Ser525=
XR_001748875.2:n.1688C=
NM_015665.6:c.1631C= MANE Select	NP_056480.1:p.Ser544=
NM_001173466.2:c.1532C=	NP_001166937.1:p.Ser511=