{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340622853",
  "communityStandardTitle": [
    "NM_007254.4(PNKP):c.992G= (p.Trp331=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772727116",
        "rs": 772727116
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 49862408,
          "referenceAllele": "C",
          "start": 49862407
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49862408C=",
        "CM000681.2:g.49862408C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 50365665,
          "referenceAllele": "C",
          "start": 50365664
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50365665C=",
        "CM000681.1:g.50365665C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 55057477,
          "referenceAllele": "C",
          "start": 55057476
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55057477C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10158,
          "referenceAllele": "G",
          "start": 10157
        }
      ],
      "hgvs": [
        "NG_027717.1:g.10158G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18565,
          "referenceAllele": "C",
          "start": 18564
        }
      ],
      "hgvs": [
        "NG_050666.1:g.18565C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.992G="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.992G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Trp331="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Trp331="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593706.3:n.347G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*919G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468896.1:n.*919G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.1493G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472300.1:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 126,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.937-127G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469826.1:n.937-127G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000625216.2:c.170G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486898.1:p.Trp57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.912G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486037.1:n.912G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627317.1:c.613G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000629179.1:n.763G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.884G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486707.1:p.Trp295="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086409255",
      "coordinates": [
        {
          "allele": "G",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086409255",
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.992G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Trp331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.992G="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.992G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Trp331="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Trp331="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}