{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA35103495",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.1574A>G (p.His525Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515380[alleleid]",
        "alleleId": 515380,
        "preferredName": "NM_024529.5(CDC73):c.1574A>G (p.His525Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/531643",
        "RCV": [
          "RCV000638115",
          "RCV002388050"
        ],
        "variationId": 531643
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193219820A>G?assembly=hg19",
        "id": "chr1:g.193219820A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193250690A>G?assembly=hg38",
        "id": "chr1:g.193250690A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/188778681",
        "rs": 188778681
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-193219820-A-G?dataset=gnomad_r2_1",
        "id": "1-193219820-A-G",
        "variant": "1:193219820 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-193250690-A-G?dataset=gnomad_r3",
        "id": "1-193250690-A-G",
        "variant": "1:193250690 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-193250690-A-G?dataset=gnomad_r4",
        "id": "1-193250690-A-G",
        "variant": "1:193250690 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 193250690,
          "referenceAllele": "A",
          "start": 193250689
        }
      ],
      "hgvs": [
        "NC_000001.11:g.193250690A>G",
        "CM000663.2:g.193250690A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 193219820,
          "referenceAllele": "A",
          "start": 193219819
        }
      ],
      "hgvs": [
        "NC_000001.10:g.193219820A>G",
        "CM000663.1:g.193219820A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 191486443,
          "referenceAllele": "A",
          "start": 191486442
        }
      ],
      "hgvs": [
        "NC_000001.9:g.191486443A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133733,
          "referenceAllele": "A",
          "start": 133732
        }
      ],
      "hgvs": [
        "NG_012691.1:g.133733A>G",
        "LRG_507:g.133733A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.5:c.1574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.4:p.His525Arg",
        "hgvsWellDefined": "ENSP00000356405.4:p.His525Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750012",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.1574A>G"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.1574A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.His525Arg"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.His525Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1352,
          "referenceAllele": "A",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000635846.1:c.1331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490035.1:p.His444Arg",
        "hgvsWellDefined": "ENSP00000490035.1:p.His444Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1846,
          "referenceAllele": "A",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000643006.1:c.*484A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496633.1:n.*484A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000648071.1:c.*1550A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497513.1:n.*1550A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649613.1:n.824A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1819,
          "referenceAllele": "A",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000650197.1:c.*272A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496929.1:n.*272A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1758,
          "referenceAllele": "A",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.3:c.1574A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.3:p.His525Arg",
        "hgvsWellDefined": "ENSP00000356405.3:p.His525Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 286,
          "referenceAllele": "A",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000477868.1:n.286A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.4:c.1574A>G",
        "LRG_507t1:c.1574A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.His525Arg",
        "hgvsWellDefined": "NP_078805.3:p.His525Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658811483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.1574A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.His525Arg",
        "hgvsWellDefined": "NP_078805.3:p.His525Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.1574A>G"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.1574A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.His525Arg"
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.His525Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}