Canonical Allele Identifier: CA2241328110

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841001A= , CM000678.2:g.88841001A=	GRCh38
NC_000016.9:g.88907409A= , CM000678.1:g.88907409A=	GRCh37
NC_000016.8:g.87434910A=	NCBI36
NG_008667.1:g.20966T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.413T= MANE Select	NP_000503.1:p.Val138=
ENST00000268695.10:c.413T= MANE Select	ENSP00000268695.5:p.Val138=
NM_000512.4:c.413T=	NP_000503.1:p.Val138=
NM_001323543.1:c.-143T=	NP_001310472.1:n.-143T=
NM_001323543.2:c.-143T=	NP_001310472.1:n.-143T=
NM_001323544.1:c.431T=	NP_001310473.1:p.Val144=
NM_001323544.2:c.431T=	NP_001310473.1:p.Val144=
ENST00000268695.9:c.413T=	ENSP00000268695.5:p.Val138=
ENST00000562593.5:n.3822T=
ENST00000562831.1:c.197T=	ENSP00000455174.1:p.Val66=
ENST00000565364.1:n.548T=
ENST00000567525.5:c.238T=	ENSP00000454484.1:n.238T=
ENST00000567779.1:n.243T=
ENST00000568613.5:c.532T=	ENSP00000457921.1:n.532T=
XM_005256301.2:c.413T=	XP_005256358.1:p.Val138=
XM_005256301.3:c.413T=	XP_005256358.1:p.Val138=
XM_005256302.1:c.431T=	XP_005256359.1:p.Val144=
XM_011522982.1:c.431T=	XP_011521284.1:p.Val144=
XM_011522982.2:c.431T=	XP_011521284.1:p.Val144=
XM_011522984.1:c.431T=	XP_011521286.1:p.Val144=
XM_017023111.2:c.431T=	XP_016878600.1:p.Val144=
XM_017023112.2:c.431T=	XP_016878601.1:p.Val144=
XM_017023113.1:c.-143T=	XP_016878602.1:n.-143T=