{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2326075498",
  "communityStandardTitle": [
    "NM_000453.3(SLC5A5):c.816C= (p.Cys272=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909175",
        "rs": 121909175
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 17877840,
          "referenceAllele": "C",
          "start": 17877839
        }
      ],
      "hgvs": [
        "NC_000019.10:g.17877840C=",
        "CM000681.2:g.17877840C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 17988649,
          "referenceAllele": "C",
          "start": 17988648
        }
      ],
      "hgvs": [
        "NC_000019.9:g.17988649C=",
        "CM000681.1:g.17988649C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 17849649,
          "referenceAllele": "C",
          "start": 17849648
        }
      ],
      "hgvs": [
        "NC_000019.8:g.17849649C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10868,
          "referenceAllele": "C",
          "start": 10867
        }
      ],
      "hgvs": [
        "NG_012930.1:g.10868C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "ENST00000222248.4:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222248.2:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740555",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222248.4:c.816C="
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.816C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222248.2:p.Cys272="
          },
          "RefSeq": {
            "hgvs": "NP_000444.1:p.Cys272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "ENST00000222248.3:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222248.2:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875382",
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.2:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000444.1:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528192.1:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526494.1:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528193.1:c.549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526495.1:p.Cys183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528194.1:c.450C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528192.2:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526494.1:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528193.3:c.549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526495.1:p.Cys183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528194.3:c.450C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_017027158.1:c.549C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882647.1:p.Cys183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875382",
      "coordinates": [
        {
          "allele": "C",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.3:c.816C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000444.1:p.Cys272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662450",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222248.4:c.816C="
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.816C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222248.2:p.Cys272="
          },
          "RefSeq": {
            "hgvs": "NP_000444.1:p.Cys272="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}