Canonical Allele Identifier: CA2241325179

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836225G= , CM000678.2:g.88836225G=	GRCh38
NC_000016.9:g.88902633G= , CM000678.1:g.88902633G=	GRCh37
NC_000016.8:g.87430134G=	NCBI36
NG_008667.1:g.25742C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.609C= MANE Select	ENSP00000268695.5:p.Ala203=
ENST00000268695.9:c.609C=	ENSP00000268695.5:p.Ala203=
ENST00000562593.5:n.4018C=
ENST00000562831.1:c.393C=	ENSP00000455174.1:p.Ala131=
ENST00000562931.5:n.197C=
ENST00000566563.1:n.311C=
ENST00000567525.5:c.290C=	ENSP00000454484.1:n.290C=
ENST00000568613.5:c.728C=	ENSP00000457921.1:n.728C=
NM_000512.4:c.609C=	NP_000503.1:p.Ala203=
XM_005256301.2:c.609C=	XP_005256358.1:p.Ala203=
XM_005256302.1:c.627C=	XP_005256359.1:p.Ala209=
XM_011522982.1:c.627C=	XP_011521284.1:p.Ala209=
XM_011522984.1:c.627C=	XP_011521286.1:p.Ala209=
NM_001323543.1:c.54C=	NP_001310472.1:p.Ala18=
NM_001323544.1:c.627C=	NP_001310473.1:p.Ala209=
XM_005256301.3:c.609C=	XP_005256358.1:p.Ala203=
XM_011522982.2:c.627C=	XP_011521284.1:p.Ala209=
XM_017023111.2:c.627C=	XP_016878600.1:p.Ala209=
XM_017023112.2:c.627C=	XP_016878601.1:p.Ala209=
XM_017023113.1:c.54C=	XP_016878602.1:p.Ala18=
NM_000512.5:c.609C= MANE Select	NP_000503.1:p.Ala203=
NM_001323543.2:c.54C=	NP_001310472.1:p.Ala18=
NM_001323544.2:c.627C=	NP_001310473.1:p.Ala209=