{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252267",
  "communityStandardTitle": [
    "NM_032409.3(PINK1):c.813C>A (p.His271Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17444[alleleid]",
        "alleleId": 17444,
        "preferredName": "NM_032409.3(PINK1):c.813C>A (p.His271Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2405",
        "RCV": [
          "RCV000002506"
        ],
        "variationId": 2405
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20971019C>A?assembly=hg19",
        "id": "chr1:g.20971019C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20644526C>A?assembly=hg38",
        "id": "chr1:g.20644526C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940284",
        "rs": 28940284
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20644526,
          "referenceAllele": "C",
          "start": 20644525
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20644526C>A",
        "CM000663.2:g.20644526C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20971019,
          "referenceAllele": "C",
          "start": 20971018
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20971019C>A",
        "CM000663.1:g.20971019C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20843606,
          "referenceAllele": "C",
          "start": 20843605
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20843606C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16072,
          "referenceAllele": "C",
          "start": 16071
        }
      ],
      "hgvs": [
        "NG_008164.1:g.16072C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000910"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.5:c.813C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.His271Gln",
        "hgvsWellDefined": "ENSP00000364204.3:p.His271Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.813C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.813C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.His271Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.His271Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.4:c.813C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.His271Gln",
        "hgvsWellDefined": "ENSP00000364204.3:p.His271Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000492302.1:n.1901C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094632",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.2:c.813C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.His271Gln",
        "hgvsWellDefined": "NP_115785.1:p.His271Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3981,
          "endIntronDirection": "+",
          "endIntronOffset": 1059,
          "referenceAllele": "G",
          "start": 3981,
          "startIntronDirection": "+",
          "startIntronOffset": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN038872",
      "geneNCBI_id": 100861548,
      "geneSymbol": "PINK1-AS",
      "hgvs": [
        "NR_046507.1:n.3981+1059G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094632",
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.3:c.813C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.His271Gln",
        "hgvsWellDefined": "NP_115785.1:p.His271Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.813C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.813C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.His271Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.His271Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}