Canonical Allele Identifier: CA2241324588
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835334C= , CM000678.2:g.88835334C= GRCh38
NC_000016.9:g.88901742C= , CM000678.1:g.88901742C= GRCh37
NC_000016.8:g.87429243C= NCBI36
NG_008667.1:g.26633G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.777G= MANE Select ENSP00000268695.5:p.Arg259=
ENST00000268695.9:c.777G= ENSP00000268695.5:p.Arg259=
ENST00000562593.5:n.4186G=
ENST00000562931.5:n.365G=
ENST00000567525.5:c.458G= ENSP00000454484.1:n.458G=
ENST00000568613.5:c.896G= ENSP00000457921.1:n.896G=
NM_000512.4:c.777G= NP_000503.1:p.Arg259=
XM_005256301.2:c.777G= XP_005256358.1:p.Arg259=
XM_005256302.1:c.795G= XP_005256359.1:p.Arg265=
XM_011522982.1:c.795G= XP_011521284.1:p.Arg265=
XM_011522984.1:c.795G= XP_011521286.1:p.Arg265=
NM_001323543.1:c.222G= NP_001310472.1:p.Arg74=
NM_001323544.1:c.795G= NP_001310473.1:p.Arg265=
XM_005256301.3:c.777G= XP_005256358.1:p.Arg259=
XM_011522982.2:c.795G= XP_011521284.1:p.Arg265=
XM_017023111.2:c.795G= XP_016878600.1:p.Arg265=
XM_017023112.2:c.795G= XP_016878601.1:p.Arg265=
XM_017023113.1:c.222G= XP_016878602.1:p.Arg74=
NM_000512.5:c.777G= MANE Select NP_000503.1:p.Arg259=
NM_001323543.2:c.222G= NP_001310472.1:p.Arg74=
NM_001323544.2:c.795G= NP_001310473.1:p.Arg265=