{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2255095375",
  "communityStandardTitle": [
    "NM_001045.6(SLC6A4):c.-220-1618G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1906872648",
        "rs": 1906872648
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 30224533,
          "referenceAllele": "C",
          "start": 30224532
        }
      ],
      "hgvs": [
        "NC_000017.11:g.30224533C=",
        "CM000679.2:g.30224533C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 28551551,
          "referenceAllele": "C",
          "start": 28551550
        }
      ],
      "hgvs": [
        "NC_000017.10:g.28551551C=",
        "CM000679.1:g.28551551C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 25575677,
          "referenceAllele": "C",
          "start": 25575676
        }
      ],
      "hgvs": [
        "NC_000017.9:g.25575677C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16404,
          "referenceAllele": "G",
          "start": 16403
        }
      ],
      "hgvs": [
        "NG_011747.2:g.16404G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 1617,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000650711.1:c.-220-1618G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498537.1:n.-220-1618G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771266",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.-220-1618G="
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.-220-1618G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.-220-1618G="
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.-220-1618G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1617,
          "referenceAllele": "G",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000261707.7:c.-220-1618G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261707.3:n.-220-1618G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 1617,
          "referenceAllele": "G",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000394821.2:c.-220-1618G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378298.2:n.-220-1618G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 2451,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "ENST00000401766.6:c.-123-2452G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385822.2:n.-123-2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1617,
          "referenceAllele": "G",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.5:c.-220-1618G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.-220-1618G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 1617,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011050",
      "geneNCBI_id": 6532,
      "geneSymbol": "SLC6A4",
      "hgvs": [
        "NM_001045.6:c.-220-1618G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001036.1:n.-220-1618G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650711.1:c.-220-1618G="
          },
          "RefSeq": {
            "hgvs": "NM_001045.6:c.-220-1618G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498537.1:n.-220-1618G="
          },
          "RefSeq": {
            "hgvs": "NP_001036.1:n.-220-1618G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}