Canonical Allele Identifier: CA2241311049

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814449C= , CM000678.2:g.88814449C=	GRCh38
NC_000016.9:g.88880857C= , CM000678.1:g.88880857C=	GRCh37
NC_000016.8:g.87408358C=	NCBI36
NG_008013.1:g.2486G=
NG_008667.1:g.47518G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1559G= MANE Select	ENSP00000268695.5:p.Trp520=
ENST00000268695.9:c.1559G=	ENSP00000268695.5:p.Trp520=
ENST00000562593.5:n.4968G=
ENST00000567525.5:c.1240G=	ENSP00000454484.1:n.1240G=
ENST00000568613.5:c.1678G=	ENSP00000457921.1:n.1678G=
NM_000512.4:c.1559G=	NP_000503.1:p.Trp520=
XM_005256302.1:c.1577G=	XP_005256359.1:p.Trp526=
NM_001323543.1:c.1004G=	NP_001310472.1:p.Trp335=
NM_001323544.1:c.1577G=	NP_001310473.1:p.Trp526=
XM_005256301.3:c.*2723G=	XP_005256358.1:n.*2723G=
XM_011522982.2:c.*2723G=	XP_011521284.1:n.*2723G=
XM_017023112.2:c.*2981G=	XP_016878601.1:n.*2981G=
XM_017023113.1:c.*2723G=	XP_016878602.1:n.*2723G=
NM_000512.5:c.1559G= MANE Select	NP_000503.1:p.Trp520=
NM_001323543.2:c.1004G=	NP_001310472.1:p.Trp335=
NM_001323544.2:c.1577G=	NP_001310473.1:p.Trp526=