{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609963",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.729+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390956[alleleid]",
        "alleleId": 390956,
        "preferredName": "NM_024529.5(CDC73):c.729+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403883",
        "RCV": [
          "RCV000473101"
        ],
        "variationId": 403883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193111197G>T?assembly=hg19",
        "id": "chr1:g.193111197G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193142067G>T?assembly=hg38",
        "id": "chr1:g.193142067G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500012",
        "rs": 1060500012
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 193142067,
          "referenceAllele": "G",
          "start": 193142066
        }
      ],
      "hgvs": [
        "NC_000001.11:g.193142067G>T",
        "CM000663.2:g.193142067G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 193111197,
          "referenceAllele": "G",
          "start": 193111196
        }
      ],
      "hgvs": [
        "NC_000001.10:g.193111197G>T",
        "CM000663.1:g.193111197G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 191377820,
          "referenceAllele": "G",
          "start": 191377819
        }
      ],
      "hgvs": [
        "NC_000001.9:g.191377820G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25110,
          "referenceAllele": "G",
          "start": 25109
        }
      ],
      "hgvs": [
        "NG_012691.1:g.25110G>T",
        "LRG_507:g.25110G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 899,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.5:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.4:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750012",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.729+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.729+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:n.729+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:n.729+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000635846.1:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490035.1:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 933,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000643006.1:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496633.1:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 877,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000643784.1:c.*205+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494944.1:n.*205+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000647662.1:n.630+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1042,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000648071.1:c.*705+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497513.1:n.*705+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 742,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649606.1:n.742+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 947,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649895.1:n.947+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000650197.1:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496929.1:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 913,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.3:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.3:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 972,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.4:c.729+1G>T",
        "LRG_507t1:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "XM_006711537.2:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "XM_006711537.4:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711600.1:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 899,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.729+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:n.729+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.729+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.729+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:n.729+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:n.729+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}