Canonical Allele Identifier: CA397097449

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824781C>A , CM000678.2:g.88824781C>A	GRCh38
NC_000016.9:g.88891189C>A , CM000678.1:g.88891189C>A	GRCh37
NC_000016.8:g.87418690C>A	NCBI36
NG_008667.1:g.37186G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1228G>T MANE Select	NP_000503.1:p.Glu410Ter
ENST00000268695.10:c.1228G>T MANE Select	ENSP00000268695.5:p.Glu410Ter
NM_000512.4:c.1228G>T	NP_000503.1:p.Glu410Ter
NM_001323543.1:c.673G>T	NP_001310472.1:p.Glu225Ter
NM_001323543.2:c.673G>T	NP_001310472.1:p.Glu225Ter
NM_001323544.1:c.1246G>T	NP_001310473.1:p.Glu416Ter
NM_001323544.2:c.1246G>T	NP_001310473.1:p.Glu416Ter
ENST00000268695.9:c.1228G>T	ENSP00000268695.5:p.Glu410Ter
ENST00000562593.5:n.4637G>T
ENST00000567525.5:c.909G>T	ENSP00000454484.1:n.909G>T
ENST00000568613.5:c.1347G>T	ENSP00000457921.1:n.1347G>T
XM_005256301.2:c.1228G>T	XP_005256358.1:p.Glu410Ter
XM_005256301.3:c.1228G>T	XP_005256358.1:p.Glu410Ter
XM_005256302.1:c.1246G>T	XP_005256359.1:p.Glu416Ter
XM_011522982.1:c.1246G>T	XP_011521284.1:p.Glu416Ter
XM_011522982.2:c.1246G>T	XP_011521284.1:p.Glu416Ter
XM_011522984.1:c.1246G>T	XP_011521286.1:p.Glu416Ter
XM_017023111.2:c.1246G>T	XP_016878600.1:p.Glu416Ter
XM_017023112.2:c.1246G>T	XP_016878601.1:p.Glu416Ter
XM_017023113.1:c.673G>T	XP_016878602.1:p.Glu225Ter