Canonical Allele Identifier: CA397092065
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048259
ClinVar RCV Id: RCV001578360
dbSNP Id: rs199638097

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88842811C>G , CM000678.2:g.88842811C>G GRCh38
NC_000016.9:g.88909219C>G , CM000678.1:g.88909219C>G GRCh37
NC_000016.8:g.87436720C>G NCBI36
NG_008667.1:g.19156G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.139G>C MANE Select ENSP00000268695.5:p.Gly47Arg
ENST00000268695.9:c.139G>C ENSP00000268695.5:p.Gly47Arg
ENST00000562593.5:n.2814G>C
ENST00000562831.1:c.29-840G>C ENSP00000455174.1:n.29-840G>C
ENST00000565364.1:n.274G>C
ENST00000567525.5:c.70-840G>C ENSP00000454484.1:n.70-840G>C
ENST00000568613.5:c.258G>C ENSP00000457921.1:n.258G>C
NM_000512.4:c.139G>C NP_000503.1:p.Gly47Arg
XM_005256301.2:c.139G>C XP_005256358.1:p.Gly47Arg
XM_005256302.1:c.157G>C XP_005256359.1:p.Gly53Arg
XM_011522982.1:c.157G>C XP_011521284.1:p.Gly53Arg
XM_011522984.1:c.157G>C XP_011521286.1:p.Gly53Arg
NM_001323543.1:c.-311-840G>C NP_001310472.1:n.-311-840G>C
NM_001323544.1:c.157G>C NP_001310473.1:p.Gly53Arg
XM_005256301.3:c.139G>C XP_005256358.1:p.Gly47Arg
XM_011522982.2:c.157G>C XP_011521284.1:p.Gly53Arg
XM_017023111.2:c.157G>C XP_016878600.1:p.Gly53Arg
XM_017023112.2:c.157G>C XP_016878601.1:p.Gly53Arg
XM_017023113.1:c.-311-840G>C XP_016878602.1:n.-311-840G>C
NM_000512.5:c.139G>C MANE Select NP_000503.1:p.Gly47Arg
NM_001323543.2:c.-311-840G>C NP_001310472.1:n.-311-840G>C
NM_001323544.2:c.157G>C NP_001310473.1:p.Gly53Arg