{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2223811515",
  "communityStandardTitle": [
    "NM_001172501.3(SLC6A2):c.*1433C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7194256",
        "rs": 7194256
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 55703779,
          "referenceAllele": "C",
          "start": 55703778
        }
      ],
      "hgvs": [
        "NC_000016.10:g.55703779C=",
        "CM000678.2:g.55703779C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 55737691,
          "referenceAllele": "C",
          "start": 55737690
        }
      ],
      "hgvs": [
        "NC_000016.9:g.55737691C=",
        "CM000678.1:g.55737691C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 54295192,
          "referenceAllele": "C",
          "start": 54295191
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54295192C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53150,
          "referenceAllele": "C",
          "start": 53149
        }
      ],
      "hgvs": [
        "NG_016969.1:g.53150C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003338"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2271,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 2271,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000219833.13:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219833.8:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3520,
          "referenceAllele": "C",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000568943.6:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457473.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000568943.6:c.*1433C="
          },
          "RefSeq": {
            "hgvs": "NM_001172501.3:c.*1433C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457473.1:n.*1433C="
          },
          "RefSeq": {
            "hgvs": "NP_001165972.1:n.*1433C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3302,
          "referenceAllele": "C",
          "start": 3301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000574918.2:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460214.2:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3189,
          "referenceAllele": "C",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000682050.1:c.*1986C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508367.1:n.*1986C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 1881,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000219833.12:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219833.8:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3542,
          "referenceAllele": "C",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000379906.6:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369237.2:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1835,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 1835,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000561820.5:c.1759-1437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454439.1:n.1759-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3148,
          "referenceAllele": "C",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000567238.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457375.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000574918.1:c.106-1437C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3542,
          "referenceAllele": "C",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001043.3:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3878,
          "referenceAllele": "C",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3148,
          "referenceAllele": "C",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172502.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165973.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 1881,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172504.1:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165975.1:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 1980,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_006721263.2:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721326.1:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523295.1:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521597.1:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2312,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 2312,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523296.1:c.1696-1437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521598.1:n.1696-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3769,
          "referenceAllele": "C",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523297.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521599.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3005,
          "referenceAllele": "C",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523299.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521601.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2964,
          "referenceAllele": "C",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523300.1:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521602.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2123,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 2123,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523295.2:c.1831-1437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521597.1:n.1831-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1988,
          "endIntronDirection": "-",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 1988,
          "startIntronDirection": "-",
          "startIntronOffset": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523296.2:c.1696-1437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521598.1:n.1696-1437C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3445,
          "referenceAllele": "C",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523297.3:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521599.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3025,
          "referenceAllele": "C",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523299.2:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521601.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4108,
          "referenceAllele": "C",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523300.2:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521602.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3479,
          "referenceAllele": "C",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XR_933403.3:n.3479C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3444,
          "referenceAllele": "C",
          "start": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.2:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3520,
          "referenceAllele": "C",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.3:c.*1433C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:n.*1433C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000568943.6:c.*1433C="
          },
          "RefSeq": {
            "hgvs": "NM_001172501.3:c.*1433C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457473.1:n.*1433C="
          },
          "RefSeq": {
            "hgvs": "NP_001165972.1:n.*1433C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}