Canonical Allele Identifier: CA2241318748
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88826508G= , CM000678.2:g.88826508G= GRCh38
NC_000016.9:g.88892916G= , CM000678.1:g.88892916G= GRCh37
NC_000016.8:g.87420417G= NCBI36
NG_008667.1:g.35459C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.1139+194C= MANE Select ENSP00000268695.5:n.1139+194C=
ENST00000268695.9:c.1139+194C= ENSP00000268695.5:n.1139+194C=
ENST00000562593.5:n.4548+194C=
ENST00000564263.1:n.415+194C=
ENST00000567525.5:c.820+194C= ENSP00000454484.1:n.820+194C=
ENST00000568613.5:c.1258+194C= ENSP00000457921.1:n.1258+194C=
NM_000512.4:c.1139+194C= NP_000503.1:n.1139+194C=
XM_005256301.2:c.1139+194C= XP_005256358.1:n.1139+194C=
XM_005256302.1:c.1157+194C= XP_005256359.1:n.1157+194C=
XM_011522982.1:c.1157+194C= XP_011521284.1:n.1157+194C=
XM_011522984.1:c.1157+194C= XP_011521286.1:n.1157+194C=
NM_001323543.1:c.584+194C= NP_001310472.1:n.584+194C=
NM_001323544.1:c.1157+194C= NP_001310473.1:n.1157+194C=
XM_005256301.3:c.1139+194C= XP_005256358.1:n.1139+194C=
XM_011522982.2:c.1157+194C= XP_011521284.1:n.1157+194C=
XM_017023111.2:c.1157+194C= XP_016878600.1:n.1157+194C=
XM_017023112.2:c.1157+194C= XP_016878601.1:n.1157+194C=
XM_017023113.1:c.584+194C= XP_016878602.1:n.584+194C=
NM_000512.5:c.1139+194C= MANE Select NP_000503.1:n.1139+194C=
NM_001323543.2:c.584+194C= NP_001310472.1:n.584+194C=
NM_001323544.2:c.1157+194C= NP_001310473.1:n.1157+194C=