{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1918332021",
  "communityStandardTitle": [
    "NM_001083116.3(PRF1):c.443C= (p.Ala148=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142012387",
        "rs": 142012387
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 70600460,
          "referenceAllele": "G",
          "start": 70600459
        }
      ],
      "hgvs": [
        "NC_000010.11:g.70600460G=",
        "CM000672.2:g.70600460G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 72360216,
          "referenceAllele": "G",
          "start": 72360215
        }
      ],
      "hgvs": [
        "NC_000010.10:g.72360216G=",
        "CM000672.1:g.72360216G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 72030222,
          "referenceAllele": "G",
          "start": 72030221
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72030222G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7316,
          "referenceAllele": "C",
          "start": 7315
        }
      ],
      "hgvs": [
        "NG_009615.1:g.7316C=",
        "LRG_94:g.7316C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 1376,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697571.1:c.*17+1376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513342.1:n.*17+1376G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2554,
          "endIntronDirection": "+",
          "endIntronOffset": 35941,
          "referenceAllele": "G",
          "start": 2554,
          "startIntronDirection": "+",
          "startIntronOffset": 35940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697572.1:c.2250+35941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513343.1:n.2250+35941G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2763,
          "endIntronDirection": "+",
          "endIntronOffset": 1376,
          "referenceAllele": "G",
          "start": 2763,
          "startIntronDirection": "+",
          "startIntronOffset": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697573.1:c.*17+1376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513344.1:n.*17+1376G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 1376,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697577.1:n.2919+1376G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2763,
          "endIntronDirection": "+",
          "endIntronOffset": 1376,
          "referenceAllele": "G",
          "start": 2763,
          "startIntronDirection": "+",
          "startIntronOffset": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697578.1:n.2763+1376G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.2:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.443C="
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.443C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Ala148="
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Ala148="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000638674.1:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492048.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 2185,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000639390.1:n.97+2185C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000373209.2:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362305.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.1:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485502",
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.1:c.443C=",
        "LRG_94t1:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570973",
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.4:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485502",
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.2:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570973",
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.5:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485502",
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.3:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.443C="
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.443C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Ala148="
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Ala148="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570973",
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.6:c.443C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Ala148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727576"
    }
  ],
  "type": "nucleotide"
}