{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256013",
  "communityStandardTitle": [
    "NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26741[alleleid]",
        "alleleId": 26741,
        "preferredName": "NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11702",
        "RCV": [
          "RCV000012468"
        ],
        "variationId": 11702
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152958816C>G?assembly=hg19",
        "id": "chrX:g.152958816C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153693361C>G?assembly=hg38",
        "id": "chrX:g.153693361C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/122453116",
        "rs": 122453116
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153693361,
          "referenceAllele": "C",
          "start": 153693360
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153693361C>G",
        "CM000685.2:g.153693361C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152958816,
          "referenceAllele": "C",
          "start": 152958815
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152958816C>G",
        "CM000685.1:g.152958816C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152612010,
          "referenceAllele": "C",
          "start": 152612009
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152612010C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10065,
          "referenceAllele": "C",
          "start": 10064
        }
      ],
      "hgvs": [
        "NG_012016.1:g.10065C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10065,
          "referenceAllele": "C",
          "start": 10064
        }
      ],
      "hgvs": [
        "NG_012016.2:g.10065C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673574"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000253122.10:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253122.5:p.Cys337Trp",
        "hgvsWellDefined": "ENSP00000253122.5:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253122.10:c.1011C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005629.4:c.1011C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253122.5:p.Cys337Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005620.1:p.Cys337Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000253122.9:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253122.5:p.Cys337Trp",
        "hgvsWellDefined": "ENSP00000253122.5:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000413787.1:c.157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400463.1:p.Leu53Val",
        "hgvsWellDefined": "ENSP00000400463.1:p.Leu53Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000430077.6:c.666C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403041.2:p.Cys222Trp",
        "hgvsWellDefined": "ENSP00000403041.2:p.Cys222Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95,
          "referenceAllele": "C",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000442457.1:c.95C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "endIntronDirection": "-",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "-",
          "startIntronOffset": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000467402.1:n.146-131C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "ENST00000485324.1:n.1044C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825852231",
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "NM_001142805.1:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136277.1:p.Cys337Trp",
        "hgvsWellDefined": "NP_001136277.1:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825852685",
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "NM_001142806.1:c.666C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136278.1:p.Cys222Trp",
        "hgvsWellDefined": "NP_001136278.1:p.Cys222Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104559",
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "NM_005629.3:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005620.1:p.Cys337Trp",
        "hgvsWellDefined": "NP_005620.1:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030715"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104559",
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "NM_005629.4:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005620.1:p.Cys337Trp",
        "hgvsWellDefined": "NP_005620.1:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667066",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253122.10:c.1011C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005629.4:c.1011C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253122.5:p.Cys337Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005620.1:p.Cys337Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825852231",
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011055",
      "geneNCBI_id": 6535,
      "geneSymbol": "SLC6A8",
      "hgvs": [
        "NM_001142805.2:c.1011C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136277.1:p.Cys337Trp",
        "hgvsWellDefined": "NP_001136277.1:p.Cys337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677633"
    }
  ],
  "type": "nucleotide"
}