{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA452997650",
  "communityStandardTitle": [
    "NM_021977.4(SLC22A3):c.534-3319C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.160824754C>A?assembly=hg19",
        "id": "chr6:g.160824754C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2504938",
        "rs": 2504938
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160403722-C-A?dataset=gnomad_r3",
        "id": "6-160403722-C-A",
        "variant": "6:160403722 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160403722-C-A?dataset=gnomad_r4",
        "id": "6-160403722-C-A",
        "variant": "6:160403722 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160403722,
          "referenceAllele": "C",
          "start": 160403721
        }
      ],
      "hgvs": [
        "NC_000006.12:g.160403722C>A",
        "CM000668.2:g.160403722C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160824754,
          "referenceAllele": "C",
          "start": 160824753
        }
      ],
      "hgvs": [
        "NC_000006.11:g.160824754C>A",
        "CM000668.1:g.160824754C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160744744,
          "referenceAllele": "C",
          "start": 160744743
        }
      ],
      "hgvs": [
        "NC_000006.10:g.160744744C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "ENST00000275300.3:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275300.2:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275300.3:c.534-3319C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021977.4:c.534-3319C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275300.2:n.534-3319C>A"
          },
          "RefSeq": {
            "hgvs": "NP_068812.1:n.534-3319C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 685,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "ENST00000275300.2:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275300.2:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "NM_021977.3:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068812.1:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267106.3:c.141-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267163.1:n.141-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267107.2:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267164.1:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536075.1:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534377.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536076.1:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534378.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 533,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536077.1:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534379.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536078.1:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534380.1:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XR_245546.1:n.576-3319C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267106.5:c.141-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267163.1:n.141-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267107.3:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267164.1:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6988,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 6988,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536075.2:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534377.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536076.3:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534378.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_017011203.2:c.78-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866692.1:n.78-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XR_001743588.1:n.576-3319C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XR_001743589.1:n.576-3319C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 3318,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "NM_021977.4:c.534-3319C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068812.1:n.534-3319C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275300.3:c.534-3319C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021977.4:c.534-3319C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275300.2:n.534-3319C>A"
          },
          "RefSeq": {
            "hgvs": "NP_068812.1:n.534-3319C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}