{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2189588330",
  "communityStandardTitle": [
    "NM_000745.4(CHRNA5):c.259-446G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/951266",
        "rs": 951266
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 78586199,
          "referenceAllele": "G",
          "start": 78586198
        }
      ],
      "hgvs": [
        "NC_000015.10:g.78586199G>T",
        "CM000677.2:g.78586199G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 78878541,
          "referenceAllele": "G",
          "start": 78878540
        }
      ],
      "hgvs": [
        "NC_000015.9:g.78878541G>T",
        "CM000677.1:g.78878541G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 76665596,
          "referenceAllele": "G",
          "start": 76665595
        }
      ],
      "hgvs": [
        "NC_000015.8:g.76665596G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25680,
          "referenceAllele": "G",
          "start": 25679
        }
      ],
      "hgvs": [
        "NG_023328.1:g.25680G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "ENST00000299565.9:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299565.5:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254744",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299565.9:c.259-446G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000745.4:c.259-446G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299565.5:n.259-446G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000736.2:n.259-446G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 73,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "ENST00000394802.4:c.74-446G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS276348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 407,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "ENST00000559554.5:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453519.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_000745.3:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000736.2:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001307945.1:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294874.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "XM_005254142.2:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254199.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001307945.2:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294874.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_000745.4:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000736.2:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781560",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299565.9:c.259-446G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000745.4:c.259-446G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299565.5:n.259-446G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000736.2:n.259-446G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001395171.1:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382100.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001395172.1:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382101.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001395173.1:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382102.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001395174.1:c.259-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382103.1:n.259-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "endIntronDirection": "-",
          "endIntronOffset": 445,
          "referenceAllele": "G",
          "start": 455,
          "startIntronDirection": "-",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001959",
      "geneNCBI_id": 1138,
      "geneSymbol": "CHRNA5",
      "hgvs": [
        "NM_001395175.1:c.256-446G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382104.1:n.256-446G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782633"
    }
  ],
  "type": "nucleotide"
}