Canonical Allele Identifier: CA2241317356

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824845G= , CM000678.2:g.88824845G=	GRCh38
NC_000016.9:g.88891253G= , CM000678.1:g.88891253G=	GRCh37
NC_000016.8:g.87418754G=	NCBI36
NG_008667.1:g.37122C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1164C= MANE Select	ENSP00000268695.5:p.Asp388=
ENST00000268695.9:c.1164C=	ENSP00000268695.5:p.Asp388=
ENST00000562593.5:n.4573C=
ENST00000564263.1:n.440C=
ENST00000567525.5:c.845C=	ENSP00000454484.1:n.845C=
ENST00000568613.5:c.1283C=	ENSP00000457921.1:n.1283C=
NM_000512.4:c.1164C=	NP_000503.1:p.Asp388=
XM_005256301.2:c.1164C=	XP_005256358.1:p.Asp388=
XM_005256302.1:c.1182C=	XP_005256359.1:p.Asp394=
XM_011522982.1:c.1182C=	XP_011521284.1:p.Asp394=
XM_011522984.1:c.1182C=	XP_011521286.1:p.Asp394=
NM_001323543.1:c.609C=	NP_001310472.1:p.Asp203=
NM_001323544.1:c.1182C=	NP_001310473.1:p.Asp394=
XM_005256301.3:c.1164C=	XP_005256358.1:p.Asp388=
XM_011522982.2:c.1182C=	XP_011521284.1:p.Asp394=
XM_017023111.2:c.1182C=	XP_016878600.1:p.Asp394=
XM_017023112.2:c.1182C=	XP_016878601.1:p.Asp394=
XM_017023113.1:c.609C=	XP_016878602.1:p.Asp203=
NM_000512.5:c.1164C= MANE Select	NP_000503.1:p.Asp388=
NM_001323543.2:c.609C=	NP_001310472.1:p.Asp203=
NM_001323544.2:c.1182C=	NP_001310473.1:p.Asp394=