{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126861",
  "communityStandardTitle": [
    "NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31802[alleleid]",
        "alleleId": 31802,
        "preferredName": "NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16763",
        "RCV": [
          "RCV000018249"
        ],
        "variationId": 16763
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1414859A>T?assembly=hg19",
        "id": "chr5:g.1414859A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1414744A>T?assembly=hg38",
        "id": "chr5:g.1414744A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607068",
        "rs": 267607068
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414744,
          "referenceAllele": "A",
          "start": 1414743
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1414744A>T",
        "CM000667.2:g.1414744A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414859,
          "referenceAllele": "A",
          "start": 1414858
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1414859A>T",
        "CM000667.1:g.1414859A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1467859,
          "referenceAllele": "A",
          "start": 1467858
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1467859A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35685,
          "referenceAllele": "T",
          "start": 35684
        }
      ],
      "hgvs": [
        "NG_015885.1:g.35685T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002903"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.12:c.1103T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Leu368Gln",
        "hgvsWellDefined": "ENSP00000270349.9:p.Leu368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.1103T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.1103T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Leu368Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Leu368Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.11:c.1103T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Leu368Gln",
        "hgvsWellDefined": "ENSP00000270349.9:p.Leu368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "T",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000511750.1:n.553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094219",
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.4:c.1103T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Leu368Gln",
        "hgvsWellDefined": "NP_001035.1:p.Leu368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094219",
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.5:c.1103T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Leu368Gln",
        "hgvsWellDefined": "NP_001035.1:p.Leu368Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.1103T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.1103T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Leu368Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Leu368Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}