{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA916081293",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.973-6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=850748[alleleid]",
        "alleleId": 850748,
        "preferredName": "NM_024529.5(CDC73):c.973-6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/839674",
        "RCV": [
          "RCV001041484"
        ],
        "variationId": 839674
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1677131770",
        "rs": 1677131770
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 193203789,
          "referenceAllele": "T",
          "start": 193203788
        }
      ],
      "hgvs": [
        "NC_000001.11:g.193203789T>C",
        "CM000663.2:g.193203789T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 193172919,
          "referenceAllele": "T",
          "start": 193172918
        }
      ],
      "hgvs": [
        "NC_000001.10:g.193172919T>C",
        "CM000663.1:g.193172919T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 191439542,
          "referenceAllele": "T",
          "start": 191439541
        }
      ],
      "hgvs": [
        "NC_000001.9:g.191439542T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86832,
          "referenceAllele": "T",
          "start": 86831
        }
      ],
      "hgvs": [
        "NG_012691.1:g.86832T>C",
        "LRG_507:g.86832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.5:c.973-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.4:n.973-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750012",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.973-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.973-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:n.973-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:n.973-6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000635846.1:c.730-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490035.1:n.730-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1244,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000643006.1:c.1041-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496633.1:n.1041-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1285,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000648071.1:c.*949-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497513.1:n.*949-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649613.1:n.223-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1190,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649895.1:n.1191-6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1070,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000650197.1:c.973-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496929.1:n.973-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1156,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.3:c.973-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.3:n.973-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.4:c.973-6T>C",
        "LRG_507t1:c.973-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:n.973-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.973-6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:n.973-6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.973-6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.973-6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:n.973-6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:n.973-6T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}