Canonical Allele Identifier: CA397079122

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835347C>G , CM000678.2:g.88835347C>G	GRCh38
NC_000016.9:g.88901755C>G , CM000678.1:g.88901755C>G	GRCh37
NC_000016.8:g.87429256C>G	NCBI36
NG_008667.1:g.26620G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.764G>C MANE Select	NP_000503.1:p.Gly255Ala
ENST00000268695.10:c.764G>C MANE Select	ENSP00000268695.5:p.Gly255Ala
NM_000512.4:c.764G>C	NP_000503.1:p.Gly255Ala
NM_001323543.1:c.209G>C	NP_001310472.1:p.Gly70Ala
NM_001323543.2:c.209G>C	NP_001310472.1:p.Gly70Ala
NM_001323544.1:c.782G>C	NP_001310473.1:p.Gly261Ala
NM_001323544.2:c.782G>C	NP_001310473.1:p.Gly261Ala
ENST00000268695.9:c.764G>C	ENSP00000268695.5:p.Gly255Ala
ENST00000562593.5:n.4173G>C
ENST00000562931.5:n.352G>C
ENST00000567525.5:c.445G>C	ENSP00000454484.1:n.445G>C
ENST00000568613.5:c.883G>C	ENSP00000457921.1:n.883G>C
XM_005256301.2:c.764G>C	XP_005256358.1:p.Gly255Ala
XM_005256301.3:c.764G>C	XP_005256358.1:p.Gly255Ala
XM_005256302.1:c.782G>C	XP_005256359.1:p.Gly261Ala
XM_011522982.1:c.782G>C	XP_011521284.1:p.Gly261Ala
XM_011522982.2:c.782G>C	XP_011521284.1:p.Gly261Ala
XM_011522984.1:c.782G>C	XP_011521286.1:p.Gly261Ala
XM_017023111.2:c.782G>C	XP_016878600.1:p.Gly261Ala
XM_017023112.2:c.782G>C	XP_016878601.1:p.Gly261Ala
XM_017023113.1:c.209G>C	XP_016878602.1:p.Gly70Ala