Canonical Allele Identifier: CA274846
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 192298
ClinVar RCV Id: RCV000172874
dbSNP Id: rs786205899
MyVariant Identifiers: chr16:g.88904054T>C (hg19) chr16:g.88837646T>C (hg38)
PubMed: PMID:26276046
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88837646T>C , CM000678.2:g.88837646T>C GRCh38
NC_000016.9:g.88904054T>C , CM000678.1:g.88904054T>C GRCh37
NC_000016.8:g.87431555T>C NCBI36
NG_008667.1:g.24321A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268695.10:c.542A>G MANE Select ENSP00000268695.5:p.Tyr181Cys
ENST00000268695.9:c.542A>G ENSP00000268695.5:p.Tyr181Cys
ENST00000561812.1:n.498A>G
ENST00000562593.5:n.3951A>G
ENST00000562831.1:c.326A>G ENSP00000455174.1:p.Tyr109Cys
ENST00000562931.5:n.130A>G
ENST00000566563.1:n.244A>G
ENST00000567525.5:c.248-1379A>G ENSP00000454484.1:n.248-1379A>G
ENST00000568613.5:c.661A>G ENSP00000457921.1:n.661A>G
NM_000512.4:c.542A>G NP_000503.1:p.Tyr181Cys
XM_005256301.2:c.542A>G XP_005256358.1:p.Tyr181Cys
XM_005256302.1:c.560A>G XP_005256359.1:p.Tyr187Cys
XM_011522982.1:c.560A>G XP_011521284.1:p.Tyr187Cys
XM_011522984.1:c.560A>G XP_011521286.1:p.Tyr187Cys
NM_001323543.1:c.-14A>G NP_001310472.1:n.-14A>G
NM_001323544.1:c.560A>G NP_001310473.1:p.Tyr187Cys
XM_005256301.3:c.542A>G XP_005256358.1:p.Tyr181Cys
XM_011522982.2:c.560A>G XP_011521284.1:p.Tyr187Cys
XM_017023111.2:c.560A>G XP_016878600.1:p.Tyr187Cys
XM_017023112.2:c.560A>G XP_016878601.1:p.Tyr187Cys
XM_017023113.1:c.-14A>G XP_016878602.1:n.-14A>G
NM_000512.5:c.542A>G MANE Select NP_000503.1:p.Tyr181Cys
NM_001323543.2:c.-14A>G NP_001310472.1:n.-14A>G
NM_001323544.2:c.560A>G NP_001310473.1:p.Tyr187Cys
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