{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400056949",
  "communityStandardTitle": [
    "NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286809[alleleid]",
        "alleleId": 1286809,
        "preferredName": "NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297019",
        "RCV": [
          "RCV001724755"
        ],
        "variationId": 1297019
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46022001C>T?assembly=hg19",
        "id": "chr17:g.46022001C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47944635C>T?assembly=hg38",
        "id": "chr17:g.47944635C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1483600034",
        "rs": 1483600034
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46022001-C-T?dataset=gnomad_r2_1",
        "id": "17-46022001-C-T",
        "variant": "17:46022001 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47944635-C-T?dataset=gnomad_r4",
        "id": "17-47944635-C-T",
        "variant": "17:47944635 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 47944635,
          "referenceAllele": "C",
          "start": 47944634
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47944635C>T",
        "CM000679.2:g.47944635C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 46022001,
          "referenceAllele": "C",
          "start": 46022000
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46022001C>T",
        "CM000679.1:g.46022001C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 43377000,
          "referenceAllele": "C",
          "start": 43376999
        }
      ],
      "hgvs": [
        "NC_000017.9:g.43377000C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8113,
          "referenceAllele": "C",
          "start": 8112
        }
      ],
      "hgvs": [
        "NG_008744.1:g.8113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.5:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.5:p.Arg95Cys",
        "hgvsWellDefined": "ENSP00000225573.5:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.7:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.3:p.Arg95Cys",
        "hgvsWellDefined": "ENSP00000399960.3:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.6:c.158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:p.Ser53Leu",
        "hgvsWellDefined": "ENSP00000463994.1:p.Ser53Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583245.6:n.251C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.6:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.2:p.Arg15Cys",
        "hgvsWellDefined": "ENSP00000463919.2:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584061.6:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463972.2:p.Arg85Cys",
        "hgvsWellDefined": "ENSP00000463972.2:p.Arg85Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641285.1:n.63C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641305.1:n.358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641323.1:c.*302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492965.1:n.*302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641427.1:n.283C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641511.1:c.198C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641703.1:c.53C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493219.1:p.Ser18Leu",
        "hgvsWellDefined": "ENSP00000493219.1:p.Ser18Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641709.1:c.*105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493349.1:n.*105C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641856.1:c.158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493224.1:p.Ser53Leu",
        "hgvsWellDefined": "ENSP00000493224.1:p.Ser53Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000642017.2:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493302.2:p.Arg95Cys",
        "hgvsWellDefined": "ENSP00000493302.2:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Arg95Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Arg95Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.4:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.4:p.Arg95Cys",
        "hgvsWellDefined": "ENSP00000225573.4:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.6:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.2:p.Arg95Cys",
        "hgvsWellDefined": "ENSP00000399960.2:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.5:c.158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:p.Ser53Leu",
        "hgvsWellDefined": "ENSP00000463994.1:p.Ser53Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583245.5:c.*302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463520.1:n.*302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.5:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.1:p.Arg15Cys",
        "hgvsWellDefined": "ENSP00000463919.1:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584061.5:c.*105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463972.1:n.*105C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000585320.5:c.158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462345.1:p.Ser53Leu",
        "hgvsWellDefined": "ENSP00000462345.1:p.Ser53Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499284472",
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.3:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Arg95Cys",
        "hgvsWellDefined": "NP_060599.1:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.2:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Arg15Cys",
        "hgvsWellDefined": "XP_005257557.1:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.1:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.3:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Arg15Cys",
        "hgvsWellDefined": "XP_005257557.1:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.2:c.-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:n.-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_017024813.1:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880302.1:p.Arg15Cys",
        "hgvsWellDefined": "XP_016880302.1:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499284472",
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.4:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Arg95Cys",
        "hgvsWellDefined": "NP_060599.1:p.Arg95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Arg95Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Arg95Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}