Canonical Allele Identifier: CA397088179

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841068C>T , CM000678.2:g.88841068C>T	GRCh38
NC_000016.9:g.88907476C>T , CM000678.1:g.88907476C>T	GRCh37
NC_000016.8:g.87434977C>T	NCBI36
NG_008667.1:g.20899G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.346G>A MANE Select	NP_000503.1:p.Gly116Ser
ENST00000268695.10:c.346G>A MANE Select	ENSP00000268695.5:p.Gly116Ser
NM_000512.4:c.346G>A	NP_000503.1:p.Gly116Ser
NM_001323543.1:c.-210G>A	NP_001310472.1:n.-210G>A
NM_001323543.2:c.-210G>A	NP_001310472.1:n.-210G>A
NM_001323544.1:c.364G>A	NP_001310473.1:p.Gly122Ser
NM_001323544.2:c.364G>A	NP_001310473.1:p.Gly122Ser
ENST00000268695.9:c.346G>A	ENSP00000268695.5:p.Gly116Ser
ENST00000562593.5:n.3755G>A
ENST00000562831.1:c.130G>A	ENSP00000455174.1:p.Gly44Ser
ENST00000565364.1:n.481G>A
ENST00000567525.5:c.171G>A	ENSP00000454484.1:p.Ala57=
ENST00000567779.1:n.176G>A
ENST00000568613.5:c.465G>A	ENSP00000457921.1:n.465G>A
XM_005256301.2:c.346G>A	XP_005256358.1:p.Gly116Ser
XM_005256301.3:c.346G>A	XP_005256358.1:p.Gly116Ser
XM_005256302.1:c.364G>A	XP_005256359.1:p.Gly122Ser
XM_011522982.1:c.364G>A	XP_011521284.1:p.Gly122Ser
XM_011522982.2:c.364G>A	XP_011521284.1:p.Gly122Ser
XM_011522984.1:c.364G>A	XP_011521286.1:p.Gly122Ser
XM_017023111.2:c.364G>A	XP_016878600.1:p.Gly122Ser
XM_017023112.2:c.364G>A	XP_016878601.1:p.Gly122Ser
XM_017023113.1:c.-210G>A	XP_016878602.1:n.-210G>A