{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2401780907",
  "communityStandardTitle": [
    "NM_000343.4(SLC5A1):c.207+804G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17745316",
        "rs": 17745316
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 32050818,
          "referenceAllele": "G",
          "start": 32050817
        }
      ],
      "hgvs": [
        "NC_000022.11:g.32050818G=",
        "CM000684.2:g.32050818G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 32446805,
          "referenceAllele": "G",
          "start": 32446804
        }
      ],
      "hgvs": [
        "NC_000022.10:g.32446805G=",
        "CM000684.1:g.32446805G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 30776805,
          "referenceAllele": "G",
          "start": 30776804
        }
      ],
      "hgvs": [
        "NC_000022.9:g.30776805G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12787,
          "referenceAllele": "G",
          "start": 12786
        }
      ],
      "hgvs": [
        "NG_017045.1:g.12787G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011036",
      "geneNCBI_id": 6523,
      "geneSymbol": "SLC5A1",
      "hgvs": [
        "ENST00000266088.9:c.207+804G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266088.4:n.207+804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266088.9:c.207+804G="
          },
          "RefSeq": {
            "hgvs": "NM_000343.4:c.207+804G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266088.4:n.207+804G="
          },
          "RefSeq": {
            "hgvs": "NP_000334.1:n.207+804G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011036",
      "geneNCBI_id": 6523,
      "geneSymbol": "SLC5A1",
      "hgvs": [
        "ENST00000266088.8:c.207+804G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266088.4:n.207+804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011036",
      "geneNCBI_id": 6523,
      "geneSymbol": "SLC5A1",
      "hgvs": [
        "NM_000343.3:c.207+804G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000334.1:n.207+804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011036",
      "geneNCBI_id": 6523,
      "geneSymbol": "SLC5A1",
      "hgvs": [
        "XM_011530331.1:c.207+804G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528633.1:n.207+804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 804,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011036",
      "geneNCBI_id": 6523,
      "geneSymbol": "SLC5A1",
      "hgvs": [
        "NM_000343.4:c.207+804G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000334.1:n.207+804G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000266088.9:c.207+804G="
          },
          "RefSeq": {
            "hgvs": "NM_000343.4:c.207+804G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000266088.4:n.207+804G="
          },
          "RefSeq": {
            "hgvs": "NP_000334.1:n.207+804G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}