Canonical Allele Identifier: CA2241313298

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818075C= , CM000678.2:g.88818075C=	GRCh38
NC_000016.9:g.88884483C= , CM000678.1:g.88884483C=	GRCh37
NC_000016.8:g.87411984C=	NCBI36
NG_008667.1:g.43892G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1414G= MANE Select	NP_000503.1:p.Val472=
ENST00000268695.10:c.1414G= MANE Select	ENSP00000268695.5:p.Val472=
NM_000512.4:c.1414G=	NP_000503.1:p.Val472=
NM_001323543.1:c.859G=	NP_001310472.1:p.Val287=
NM_001323543.2:c.859G=	NP_001310472.1:p.Val287=
NM_001323544.1:c.1432G=	NP_001310473.1:p.Val478=
NM_001323544.2:c.1432G=	NP_001310473.1:p.Val478=
ENST00000268695.9:c.1414G=	ENSP00000268695.5:p.Val472=
ENST00000562593.5:n.4823G=
ENST00000567525.5:c.1095G=	ENSP00000454484.1:n.1095G=
ENST00000568613.5:c.1533G=	ENSP00000457921.1:n.1533G=
XM_005256301.2:c.1414G=	XP_005256358.1:p.Val472=
XM_005256301.3:c.1414G=	XP_005256358.1:p.Val472=
XM_005256302.1:c.1432G=	XP_005256359.1:p.Val478=
XM_011522982.1:c.1432G=	XP_011521284.1:p.Val478=
XM_011522982.2:c.1432G=	XP_011521284.1:p.Val478=
XM_011522984.1:c.1432G=	XP_011521286.1:p.Val478=
XM_017023111.2:c.1432G=	XP_016878600.1:p.Val478=
XM_017023112.2:c.1432G=	XP_016878601.1:p.Val478=
XM_017023113.1:c.859G=	XP_016878602.1:p.Val287=