{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397098123",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036186[alleleid]",
        "alleleId": 1036186,
        "preferredName": "NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048226",
        "RCV": [
          "RCV001578328"
        ],
        "variationId": 1048226
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88893110C>G?assembly=hg19",
        "id": "chr16:g.88893110C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88826702C>G?assembly=hg38",
        "id": "chr16:g.88826702C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2142995734",
        "rs": 2142995734
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88826702,
          "referenceAllele": "C",
          "start": 88826701
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88826702C>G",
        "CM000678.2:g.88826702C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88893110,
          "referenceAllele": "C",
          "start": 88893109
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88893110C>G",
        "CM000678.1:g.88893110C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87420611,
          "referenceAllele": "C",
          "start": 87420610
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87420611C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35265,
          "referenceAllele": "G",
          "start": 35264
        }
      ],
      "hgvs": [
        "NG_008667.1:g.35265G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Arg380Thr",
        "hgvsWellDefined": "ENSP00000268695.5:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1139G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1139G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Arg380Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Arg380Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Arg380Thr",
        "hgvsWellDefined": "ENSP00000268695.5:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4548,
          "referenceAllele": "G",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4548G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "referenceAllele": "G",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000564263.1:n.415G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.820G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.820G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.1258G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.1258G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097699",
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Arg380Thr",
        "hgvsWellDefined": "NP_000503.1:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Arg380Thr",
        "hgvsWellDefined": "XP_005256358.1:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_005256359.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_011521284.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_011521286.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194036",
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Arg195Thr",
        "hgvsWellDefined": "NP_001310472.1:p.Arg195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249179",
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Arg386Thr",
        "hgvsWellDefined": "NP_001310473.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Arg380Thr",
        "hgvsWellDefined": "XP_005256358.1:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_011521284.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_016878600.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Arg386Thr",
        "hgvsWellDefined": "XP_016878601.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:p.Arg195Thr",
        "hgvsWellDefined": "XP_016878602.1:p.Arg195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097699",
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.1139G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Arg380Thr",
        "hgvsWellDefined": "NP_000503.1:p.Arg380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1139G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1139G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Arg380Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Arg380Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194036",
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Arg195Thr",
        "hgvsWellDefined": "NP_001310472.1:p.Arg195Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249179",
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Arg386Thr",
        "hgvsWellDefined": "NP_001310473.1:p.Arg386Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}