Canonical Allele Identifier: CA251573
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 711
dbSNP Id: rs118204449

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835794C>T , CM000678.2:g.88835794C>T GRCh38
NC_000016.9:g.88902202C>T , CM000678.1:g.88902202C>T GRCh37
NC_000016.8:g.87429703C>T NCBI36
NG_008667.1:g.26173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.689G>A MANE Select ENSP00000268695.5:p.Trp230Ter
ENST00000268695.9:c.689G>A ENSP00000268695.5:p.Trp230Ter
ENST00000562593.5:n.4098G>A
ENST00000562831.1:c.473G>A ENSP00000455174.1:p.Trp158Ter
ENST00000562931.5:n.277G>A
ENST00000566563.1:n.391G>A
ENST00000567525.5:c.370G>A ENSP00000454484.1:n.370G>A
ENST00000568613.5:c.808G>A ENSP00000457921.1:n.808G>A
NM_000512.4:c.689G>A NP_000503.1:p.Trp230Ter
XM_005256301.2:c.689G>A XP_005256358.1:p.Trp230Ter
XM_005256302.1:c.707G>A XP_005256359.1:p.Trp236Ter
XM_011522982.1:c.707G>A XP_011521284.1:p.Trp236Ter
XM_011522984.1:c.707G>A XP_011521286.1:p.Trp236Ter
NM_001323543.1:c.134G>A NP_001310472.1:p.Trp45Ter
NM_001323544.1:c.707G>A NP_001310473.1:p.Trp236Ter
XM_005256301.3:c.689G>A XP_005256358.1:p.Trp230Ter
XM_011522982.2:c.707G>A XP_011521284.1:p.Trp236Ter
XM_017023111.2:c.707G>A XP_016878600.1:p.Trp236Ter
XM_017023112.2:c.707G>A XP_016878601.1:p.Trp236Ter
XM_017023113.1:c.134G>A XP_016878602.1:p.Trp45Ter
NM_000512.5:c.689G>A MANE Select NP_000503.1:p.Trp230Ter
NM_001323543.2:c.134G>A NP_001310472.1:p.Trp45Ter
NM_001323544.2:c.707G>A NP_001310473.1:p.Trp236Ter