Canonical Allele Identifier: CA2241328031
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88840897C= , CM000678.2:g.88840897C= GRCh38
NC_000016.9:g.88907305C= , CM000678.1:g.88907305C= GRCh37
NC_000016.8:g.87434806C= NCBI36
NG_008667.1:g.21070G=

Transcript Alleles

HGVS Amino-acid change
ENST00000268695.10:c.422+95G= MANE Select ENSP00000268695.5:n.422+95G=
ENST00000268695.9:c.422+95G= ENSP00000268695.5:n.422+95G=
ENST00000562593.5:n.3831+95G=
ENST00000562831.1:c.206+95G= ENSP00000455174.1:n.206+95G=
ENST00000565364.1:n.558-45G=
ENST00000567525.5:c.247+95G= ENSP00000454484.1:n.247+95G=
ENST00000567779.1:n.347G=
ENST00000568613.5:c.541+95G= ENSP00000457921.1:n.541+95G=
NM_000512.4:c.422+95G= NP_000503.1:n.422+95G=
XM_005256301.2:c.422+95G= XP_005256358.1:n.422+95G=
XM_005256302.1:c.440+95G= XP_005256359.1:n.440+95G=
XM_011522982.1:c.440+95G= XP_011521284.1:n.440+95G=
XM_011522984.1:c.440+95G= XP_011521286.1:n.440+95G=
NM_001323543.1:c.-134+95G= NP_001310472.1:n.-134+95G=
NM_001323544.1:c.440+95G= NP_001310473.1:n.440+95G=
XM_005256301.3:c.422+95G= XP_005256358.1:n.422+95G=
XM_011522982.2:c.440+95G= XP_011521284.1:n.440+95G=
XM_017023111.2:c.440+95G= XP_016878600.1:n.440+95G=
XM_017023112.2:c.440+95G= XP_016878601.1:n.440+95G=
XM_017023113.1:c.-134+95G= XP_016878602.1:n.-134+95G=
NM_000512.5:c.422+95G= MANE Select NP_000503.1:n.422+95G=
NM_001323543.2:c.-134+95G= NP_001310472.1:n.-134+95G=
NM_001323544.2:c.440+95G= NP_001310473.1:n.440+95G=