Canonical Allele Identifier: CA2241317360
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88824850C= , CM000678.2:g.88824850C= GRCh38
NC_000016.9:g.88891258C= , CM000678.1:g.88891258C= GRCh37
NC_000016.8:g.87418759C= NCBI36
NG_008667.1:g.37117G=

Transcript Alleles

HGVS Amino-acid change
ENST00000268695.10:c.1159G= MANE Select ENSP00000268695.5:p.Gly387=
ENST00000268695.9:c.1159G= ENSP00000268695.5:p.Gly387=
ENST00000562593.5:n.4568G=
ENST00000564263.1:n.435G=
ENST00000567525.5:c.840G= ENSP00000454484.1:n.840G=
ENST00000568613.5:c.1278G= ENSP00000457921.1:n.1278G=
NM_000512.4:c.1159G= NP_000503.1:p.Gly387=
XM_005256301.2:c.1159G= XP_005256358.1:p.Gly387=
XM_005256302.1:c.1177G= XP_005256359.1:p.Gly393=
XM_011522982.1:c.1177G= XP_011521284.1:p.Gly393=
XM_011522984.1:c.1177G= XP_011521286.1:p.Gly393=
NM_001323543.1:c.604G= NP_001310472.1:p.Gly202=
NM_001323544.1:c.1177G= NP_001310473.1:p.Gly393=
XM_005256301.3:c.1159G= XP_005256358.1:p.Gly387=
XM_011522982.2:c.1177G= XP_011521284.1:p.Gly393=
XM_017023111.2:c.1177G= XP_016878600.1:p.Gly393=
XM_017023112.2:c.1177G= XP_016878601.1:p.Gly393=
XM_017023113.1:c.604G= XP_016878602.1:p.Gly202=
NM_000512.5:c.1159G= MANE Select NP_000503.1:p.Gly387=
NM_001323543.2:c.604G= NP_001310472.1:p.Gly202=
NM_001323544.2:c.1177G= NP_001310473.1:p.Gly393=