{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140615195",
  "communityStandardTitle": [
    "NM_032409.3(PINK1):c.1366C= (p.Gln456=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45539432",
        "rs": 45539432
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20649109,
          "referenceAllele": "C",
          "start": 20649108
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20649109C=",
        "CM000663.2:g.20649109C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20975602,
          "referenceAllele": "C",
          "start": 20975601
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20975602C=",
        "CM000663.1:g.20975602C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 20848189,
          "referenceAllele": "C",
          "start": 20848188
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20848189C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20655,
          "referenceAllele": "C",
          "start": 20654
        }
      ],
      "hgvs": [
        "NG_008164.1:g.20655C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000910"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.5:c.1366C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Gln456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.1366C="
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.1366C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Gln456="
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Gln456="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.4:c.1366C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Gln456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000400490.2:n.459C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2816,
          "referenceAllele": "C",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000492302.1:n.2816C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063893664",
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.2:c.1366C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Gln456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3085,
          "referenceAllele": "G",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN038872",
      "geneNCBI_id": 100861548,
      "geneSymbol": "PINK1-AS",
      "hgvs": [
        "NR_046507.1:n.3085G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063893664",
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.3:c.1366C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Gln456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.1366C="
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.1366C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Gln456="
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Gln456="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}