{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9303240",
  "communityStandardTitle": [
    "NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=349543[alleleid]",
        "alleleId": 349543,
        "preferredName": "NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328542",
        "RCV": [
          "RCV003669134",
          "RCV000390236"
        ],
        "variationId": 328542
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-17999239-C-T",
        "id": "19-17999239-C-T",
        "variant": "19:17999239 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17999239C>T?assembly=hg19",
        "id": "chr19:g.17999239C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17888430C>T?assembly=hg38",
        "id": "chr19:g.17888430C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45602038",
        "rs": 45602038
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17999239-C-T?dataset=gnomad_r2_1",
        "id": "19-17999239-C-T",
        "variant": "19:17999239 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17888430-C-T?dataset=gnomad_r3",
        "id": "19-17888430-C-T",
        "variant": "19:17888430 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17888430-C-T?dataset=gnomad_r4",
        "id": "19-17888430-C-T",
        "variant": "19:17888430 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 17888430,
          "referenceAllele": "C",
          "start": 17888429
        }
      ],
      "hgvs": [
        "NC_000019.10:g.17888430C>T",
        "CM000681.2:g.17888430C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 17999239,
          "referenceAllele": "C",
          "start": 17999238
        }
      ],
      "hgvs": [
        "NC_000019.9:g.17999239C>T",
        "CM000681.1:g.17999239C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 17860239,
          "referenceAllele": "C",
          "start": 17860238
        }
      ],
      "hgvs": [
        "NC_000019.8:g.17860239C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21458,
          "referenceAllele": "C",
          "start": 21457
        }
      ],
      "hgvs": [
        "NG_012930.1:g.21458C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "ENST00000222248.4:c.1626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222248.2:p.Cys542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740555",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222248.4:c.1626C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.1626C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222248.2:p.Cys542="
          },
          "RefSeq": {
            "hgvs": "NP_000444.1:p.Cys542="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "ENST00000222248.3:c.1626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222248.2:p.Cys542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825142548",
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.2:c.1626C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000444.1:p.Cys542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2568,
          "referenceAllele": "C",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528192.1:c.1659C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526494.1:p.Cys553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2073,
          "referenceAllele": "C",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528193.1:c.1392C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526495.1:p.Cys464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528194.1:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2585,
          "referenceAllele": "C",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528192.2:c.1659C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526494.1:p.Cys553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2089,
          "referenceAllele": "C",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528193.3:c.1392C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526495.1:p.Cys464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_011528194.3:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526496.1:p.Cys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "C",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "XM_017027158.1:c.1359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882647.1:p.Cys453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825142548",
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011040",
      "geneNCBI_id": 6528,
      "geneSymbol": "SLC5A5",
      "hgvs": [
        "NM_000453.3:c.1626C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000444.1:p.Cys542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662450",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222248.4:c.1626C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000453.3:c.1626C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222248.2:p.Cys542="
          },
          "RefSeq": {
            "hgvs": "NP_000444.1:p.Cys542="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}