{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340624187",
  "communityStandardTitle": [
    "NM_007254.4(PNKP):c.526C= (p.Leu176=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606957",
        "rs": 267606957
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 49864376,
          "referenceAllele": "G",
          "start": 49864375
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49864376G=",
        "CM000681.2:g.49864376G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50367633,
          "referenceAllele": "G",
          "start": 50367632
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50367633G=",
        "CM000681.1:g.50367633G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 55059445,
          "referenceAllele": "G",
          "start": 55059444
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55059445G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8190,
          "referenceAllele": "C",
          "start": 8189
        }
      ],
      "hgvs": [
        "NG_027717.1:g.8190C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.526C="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.526C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Leu176="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Leu176="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000636214.1:c.*63C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489983.1:n.*63C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*453C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468896.1:n.*453C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.940C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472300.1:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596726.3:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470887.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000599543.3:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469848.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469826.1:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "endIntronDirection": "-",
          "endIntronOffset": 139,
          "referenceAllele": "C",
          "start": 498,
          "startIntronDirection": "-",
          "startIntronOffset": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.499-140C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486037.1:n.499-140C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "endIntronDirection": "-",
          "endIntronOffset": 304,
          "referenceAllele": "C",
          "start": 257,
          "startIntronDirection": "-",
          "startIntronOffset": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627317.1:c.258-305C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "referenceAllele": "C",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000629179.1:n.210C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486707.1:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829703788",
      "coordinates": [
        {
          "allele": "C",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829703788",
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.526C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Leu176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.526C="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.526C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Leu176="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Leu176="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}