Canonical Allele Identifier: CA397076381
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1358302
dbSNP Id: rs2143001165

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835294G>A , CM000678.2:g.88835294G>A GRCh38
NC_000016.9:g.88901702G>A , CM000678.1:g.88901702G>A GRCh37
NC_000016.8:g.87429203G>A NCBI36
NG_008667.1:g.26673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.817C>T MANE Select ENSP00000268695.5:p.Gln273Ter
ENST00000268695.9:c.817C>T ENSP00000268695.5:p.Gln273Ter
ENST00000562593.5:n.4226C>T
ENST00000562931.5:n.405C>T
ENST00000567525.5:c.498C>T ENSP00000454484.1:n.498C>T
ENST00000568613.5:c.936C>T ENSP00000457921.1:n.936C>T
NM_000512.4:c.817C>T NP_000503.1:p.Gln273Ter
XM_005256301.2:c.817C>T XP_005256358.1:p.Gln273Ter
XM_005256302.1:c.835C>T XP_005256359.1:p.Gln279Ter
XM_011522982.1:c.835C>T XP_011521284.1:p.Gln279Ter
XM_011522984.1:c.835C>T XP_011521286.1:p.Gln279Ter
NM_001323543.1:c.262C>T NP_001310472.1:p.Gln88Ter
NM_001323544.1:c.835C>T NP_001310473.1:p.Gln279Ter
XM_005256301.3:c.817C>T XP_005256358.1:p.Gln273Ter
XM_011522982.2:c.835C>T XP_011521284.1:p.Gln279Ter
XM_017023111.2:c.835C>T XP_016878600.1:p.Gln279Ter
XM_017023112.2:c.835C>T XP_016878601.1:p.Gln279Ter
XM_017023113.1:c.262C>T XP_016878602.1:p.Gln88Ter
NM_000512.5:c.817C>T MANE Select NP_000503.1:p.Gln273Ter
NM_001323543.2:c.262C>T NP_001310472.1:p.Gln88Ter
NM_001323544.2:c.835C>T NP_001310473.1:p.Gln279Ter