{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8061401",
  "communityStandardTitle": [
    "NM_001172501.3(SLC6A2):c.296C>T (p.Thr99Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4986664"
      },
      {
        "active": false,
        "id": "COSM4986665"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=703741[alleleid]",
        "alleleId": 703741,
        "preferredName": "NM_001172501.3(SLC6A2):c.296C>T (p.Thr99Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/778123",
        "RCV": [
          "RCV000958718",
          "RCV004533698"
        ],
        "variationId": 778123
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-55703498-C-T",
        "id": "16-55703498-C-T",
        "variant": "16:55703498 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.55703498C>T?assembly=hg19",
        "id": "chr16:g.55703498C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.55669586C>T?assembly=hg38",
        "id": "chr16:g.55669586C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805065",
        "rs": 1805065
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-55703498-C-T?dataset=gnomad_r2_1",
        "id": "16-55703498-C-T",
        "variant": "16:55703498 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-55669586-C-T?dataset=gnomad_r3",
        "id": "16-55669586-C-T",
        "variant": "16:55669586 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-55669586-C-T?dataset=gnomad_r4",
        "id": "16-55669586-C-T",
        "variant": "16:55669586 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 55669586,
          "referenceAllele": "C",
          "start": 55669585
        }
      ],
      "hgvs": [
        "NC_000016.10:g.55669586C>T",
        "CM000678.2:g.55669586C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 55703498,
          "referenceAllele": "C",
          "start": 55703497
        }
      ],
      "hgvs": [
        "NC_000016.9:g.55703498C>T",
        "CM000678.1:g.55703498C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 54260999,
          "referenceAllele": "C",
          "start": 54260998
        }
      ],
      "hgvs": [
        "NC_000016.8:g.54260999C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18957,
          "referenceAllele": "C",
          "start": 18956
        }
      ],
      "hgvs": [
        "NG_016969.1:g.18957C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003338"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000219833.13:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219833.8:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000219833.8:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000568943.6:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457473.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000457473.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000568943.6:c.296C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001172501.3:c.296C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457473.1:p.Thr99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001165972.1:p.Thr99Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000574918.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460214.2:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000460214.2:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000682050.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508367.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000508367.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000219833.12:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219833.8:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000219833.8:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000379906.6:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369237.2:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000369237.2:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000414754.7:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394956.3:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000394956.3:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000561820.5:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454439.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000454439.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000566163.5:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456210.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000456210.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000568529.6:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456377.2:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000456377.2:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000568655.5:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454603.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000454603.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "ENST00000568943.5:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457473.1:p.Thr99Ile",
        "hgvsWellDefined": "ENSP00000457473.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825355913",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001043.3:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034.1:p.Thr99Ile",
        "hgvsWellDefined": "NP_001034.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066538",
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:p.Thr99Ile",
        "hgvsWellDefined": "NP_001165972.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992730",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172504.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165975.1:p.Thr99Ile",
        "hgvsWellDefined": "NP_001165975.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_006721263.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721326.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_006721326.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523295.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521597.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521597.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523296.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521598.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521598.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523297.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521599.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521599.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523298.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521600.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521600.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XR_933403.1:n.913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523295.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521597.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521597.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523296.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521598.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521598.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523297.3:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521599.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521599.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XM_011523298.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521600.1:p.Thr99Ile",
        "hgvsWellDefined": "XP_011521600.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "XR_933403.3:n.589C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066538",
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:p.Thr99Ile",
        "hgvsWellDefined": "NP_001165972.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826066538",
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.3:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:p.Thr99Ile",
        "hgvsWellDefined": "NP_001165972.1:p.Thr99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000568943.6:c.296C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001172501.3:c.296C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457473.1:p.Thr99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001165972.1:p.Thr99Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}