Canonical Allele Identifier: CA8234964
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1585074
dbSNP Id: rs141544939

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835278G>A , CM000678.2:g.88835278G>A GRCh38
NC_000016.9:g.88901686G>A , CM000678.1:g.88901686G>A GRCh37
NC_000016.8:g.87429187G>A NCBI36
NG_008667.1:g.26689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.833C>T MANE Select ENSP00000268695.5:p.Ala278Val
ENST00000268695.9:c.833C>T ENSP00000268695.5:p.Ala278Val
ENST00000562593.5:n.4242C>T
ENST00000562931.5:n.421C>T
ENST00000567525.5:c.514C>T ENSP00000454484.1:n.514C>T
ENST00000568613.5:c.952C>T ENSP00000457921.1:n.952C>T
NM_000512.4:c.833C>T NP_000503.1:p.Ala278Val
XM_005256301.2:c.833C>T XP_005256358.1:p.Ala278Val
XM_005256302.1:c.851C>T XP_005256359.1:p.Ala284Val
XM_011522982.1:c.851C>T XP_011521284.1:p.Ala284Val
XM_011522984.1:c.851C>T XP_011521286.1:p.Ala284Val
NM_001323543.1:c.278C>T NP_001310472.1:p.Ala93Val
NM_001323544.1:c.851C>T NP_001310473.1:p.Ala284Val
XM_005256301.3:c.833C>T XP_005256358.1:p.Ala278Val
XM_011522982.2:c.851C>T XP_011521284.1:p.Ala284Val
XM_017023111.2:c.851C>T XP_016878600.1:p.Ala284Val
XM_017023112.2:c.851C>T XP_016878601.1:p.Ala284Val
XM_017023113.1:c.278C>T XP_016878602.1:p.Ala93Val
NM_000512.5:c.833C>T MANE Select NP_000503.1:p.Ala278Val
NM_001323543.2:c.278C>T NP_001310472.1:p.Ala93Val
NM_001323544.2:c.851C>T NP_001310473.1:p.Ala284Val