{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4090202",
  "communityStandardTitle": [
    "NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395419[alleleid]",
        "alleleId": 395419,
        "preferredName": "NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409266",
        "RCV": [
          "RCV000460040",
          "RCV003326436",
          "RCV003313956"
        ],
        "variationId": 409266
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-162206825-C-G",
        "id": "6-162206825-C-G",
        "variant": "6:162206825 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.162206825C>G?assembly=hg19",
        "id": "chr6:g.162206825C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.161785793C>G?assembly=hg38",
        "id": "chr6:g.161785793C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751037529",
        "rs": 751037529
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-162206825-C-G?dataset=gnomad_r2_1",
        "id": "6-162206825-C-G",
        "variant": "6:162206825 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-161785793-C-G?dataset=gnomad_r4",
        "id": "6-161785793-C-G",
        "variant": "6:161785793 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 161785793,
          "referenceAllele": "C",
          "start": 161785792
        }
      ],
      "hgvs": [
        "NC_000006.12:g.161785793C>G",
        "CM000668.2:g.161785793C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 162206825,
          "referenceAllele": "C",
          "start": 162206824
        }
      ],
      "hgvs": [
        "NC_000006.11:g.162206825C>G",
        "CM000668.1:g.162206825C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 162126815,
          "referenceAllele": "C",
          "start": 162126814
        }
      ],
      "hgvs": [
        "NC_000006.10:g.162126815C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947010,
          "referenceAllele": "G",
          "start": 947009
        }
      ],
      "hgvs": [
        "NG_008289.1:g.947010G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947010,
          "referenceAllele": "G",
          "start": 947009
        }
      ],
      "hgvs": [
        "NG_008289.2:g.947010G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000338468.8:c.728G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343589.4:n.728G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366894.6:c.609G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355860.2:n.609G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.6:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:p.Gly284Arg",
        "hgvsWellDefined": "ENSP00000355865.1:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.850G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.850G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:p.Gly284Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:p.Gly284Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000673871.1:c.845G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674006.1:n.235G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674436.1:n.486G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674501.1:n.957G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000338468.7:c.277G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343589.3:p.Gly93Arg",
        "hgvsWellDefined": "ENSP00000343589.3:p.Gly93Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366892.5:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355858.1:p.Gly284Arg",
        "hgvsWellDefined": "ENSP00000355858.1:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366894.5:c.277G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355860.1:p.Gly93Arg",
        "hgvsWellDefined": "ENSP00000355860.1:p.Gly93Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366896.5:c.403G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355862.1:p.Gly135Arg",
        "hgvsWellDefined": "ENSP00000355862.1:p.Gly135Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366897.5:c.766G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355863.1:p.Gly256Arg",
        "hgvsWellDefined": "ENSP00000355863.1:p.Gly256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.5:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:p.Gly284Arg",
        "hgvsWellDefined": "ENSP00000355865.1:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000479615.5:c.613G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434414.1:p.Gly205Arg",
        "hgvsWellDefined": "ENSP00000434414.1:p.Gly205Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095792",
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.2:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:p.Gly284Arg",
        "hgvsWellDefined": "NP_004553.2:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829748298",
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.2:c.766G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:p.Gly256Arg",
        "hgvsWellDefined": "NP_054642.2:p.Gly256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829748623",
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.2:c.403G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:p.Gly135Arg",
        "hgvsWellDefined": "NP_054643.2:p.Gly135Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535863.1:c.847G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534165.1:p.Gly283Arg",
        "hgvsWellDefined": "XP_011534165.1:p.Gly283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535864.1:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534166.1:p.Gly284Arg",
        "hgvsWellDefined": "XP_011534166.1:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535865.1:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534167.1:p.Gly284Arg",
        "hgvsWellDefined": "XP_011534167.1:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010908.1:c.964G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866397.1:p.Gly322Arg",
        "hgvsWellDefined": "XP_016866397.1:p.Gly322Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010909.2:c.610G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866398.1:p.Gly204Arg",
        "hgvsWellDefined": "XP_016866398.1:p.Gly204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_024446449.1:c.613G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302217.1:p.Gly205Arg",
        "hgvsWellDefined": "XP_024302217.1:p.Gly205Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XR_001743443.2:n.956G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095792",
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.3:c.850G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:p.Gly284Arg",
        "hgvsWellDefined": "NP_004553.2:p.Gly284Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.850G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.850G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:p.Gly284Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:p.Gly284Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829748298",
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.3:c.766G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:p.Gly256Arg",
        "hgvsWellDefined": "NP_054642.2:p.Gly256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829748623",
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.3:c.403G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:p.Gly135Arg",
        "hgvsWellDefined": "NP_054643.2:p.Gly135Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697162"
    }
  ],
  "type": "nucleotide"
}