{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354649264",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.1300-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542790[alleleid]",
        "alleleId": 542790,
        "preferredName": "NM_000532.5(PCCB):c.1300-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553749",
        "RCV": [
          "RCV000669264"
        ],
        "variationId": 553749
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136046474A>C?assembly=hg19",
        "id": "chr3:g.136046474A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136327632A>C?assembly=hg38",
        "id": "chr3:g.136327632A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553784684",
        "rs": 1553784684
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 136327632,
          "referenceAllele": "A",
          "start": 136327631
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136327632A>C",
        "CM000665.2:g.136327632A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 136046474,
          "referenceAllele": "A",
          "start": 136046473
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136046474A>C",
        "CM000665.1:g.136046474A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 137529164,
          "referenceAllele": "A",
          "start": 137529163
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137529164A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82308,
          "referenceAllele": "A",
          "start": 82307
        }
      ],
      "hgvs": [
        "NG_008939.1:g.82308A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1335,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.1300-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:n.1300-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1300-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1300-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:n.1300-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:n.1300-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1369,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.1300-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:n.1300-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1251,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.1231-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:n.1231-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.1360-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:n.1360-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1413,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1413,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.1393-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:n.1393-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1376,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1376,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.1360-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:n.1360-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1317,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.1300-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:n.1300-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1500,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1500,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.1501-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 823,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.824-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 6647,
          "referenceAllele": "A",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 6648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.885-6648A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.885-6648A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 972,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.952-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:n.952-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1263,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.1243-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:n.1243-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1219,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.1199-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:n.1199-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1149,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.1129-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:n.1129-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.1300-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:n.1300-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1410,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.1360-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:n.1360-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1335,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.1300-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:n.1300-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1300-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1300-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:n.1300-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:n.1300-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1395,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1360-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:n.1360-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}