{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1583109489",
  "communityStandardTitle": [
    "NM_003059.3(SLC22A4):c.393+6607C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3792876",
        "rs": 3792876
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 132301616,
          "referenceAllele": "C",
          "start": 132301615
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132301616C=",
        "CM000667.2:g.132301616C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131637309,
          "referenceAllele": "C",
          "start": 131637308
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131637309C=",
        "CM000667.1:g.131637309C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131665208,
          "referenceAllele": "C",
          "start": 131665207
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131665208C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12165,
          "referenceAllele": "C",
          "start": 12164
        }
      ],
      "hgvs": [
        "NG_012129.1:g.12165C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12165,
          "referenceAllele": "C",
          "start": 12164
        }
      ],
      "hgvs": [
        "NG_012129.2:g.12165C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673583"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 616,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.4:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.393+6607C="
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.393+6607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:n.393+6607C="
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:n.393+6607C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 567,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 567,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.3:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 5995,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000491257.1:n.197+5995C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 558,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.2:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.2:c.-32+6607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:n.-32+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.1:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "endIntronDirection": "+",
          "endIntronOffset": 5995,
          "referenceAllele": "C",
          "start": 1238,
          "startIntronDirection": "+",
          "startIntronOffset": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XR_948289.1:n.1238+5995C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 68,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.4:c.-32+6607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:n.-32+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.2:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "endIntronDirection": "+",
          "endIntronOffset": 5995,
          "referenceAllele": "C",
          "start": 606,
          "startIntronDirection": "+",
          "startIntronOffset": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_017009776.1:c.-136+5995C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865265.1:n.-136+5995C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "endIntronDirection": "+",
          "endIntronOffset": 6607,
          "referenceAllele": "C",
          "start": 616,
          "startIntronDirection": "+",
          "startIntronOffset": 6606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.3:c.393+6607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:n.393+6607C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.393+6607C="
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.393+6607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:n.393+6607C="
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:n.393+6607C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}