{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA422491612",
  "communityStandardTitle": [
    "NM_024529.5(CDC73):c.975G>A (p.Glu325=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2472700[alleleid]",
        "alleleId": 2472700,
        "preferredName": "NM_024529.5(CDC73):c.975G>A (p.Glu325=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2497617",
        "RCV": [
          "RCV003214072"
        ],
        "variationId": 2497617
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.193172927G>A?assembly=hg19",
        "id": "chr1:g.193172927G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2527440067",
        "rs": 2527440067
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 193203797,
          "referenceAllele": "G",
          "start": 193203796
        }
      ],
      "hgvs": [
        "NC_000001.11:g.193203797G>A",
        "CM000663.2:g.193203797G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 193172927,
          "referenceAllele": "G",
          "start": 193172926
        }
      ],
      "hgvs": [
        "NC_000001.10:g.193172927G>A",
        "CM000663.1:g.193172927G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 191439550,
          "referenceAllele": "G",
          "start": 191439549
        }
      ],
      "hgvs": [
        "NC_000001.9:g.191439550G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86840,
          "referenceAllele": "G",
          "start": 86839
        }
      ],
      "hgvs": [
        "NG_012691.1:g.86840G>A",
        "LRG_507:g.86840G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.5:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.4:p.Glu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750012",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.975G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.Glu325="
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.Glu325="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000635846.1:c.732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490035.1:p.Glu244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000643006.1:c.1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496633.1:p.Arg348Lys",
        "hgvsWellDefined": "ENSP00000496633.1:p.Arg348Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000648071.1:c.*951G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497513.1:n.*951G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649613.1:n.225G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000649895.1:n.1193G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000650197.1:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496929.1:p.Glu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "ENST00000367435.3:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356405.3:p.Glu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.4:c.975G>A",
        "LRG_507t1:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.Glu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016783",
      "geneNCBI_id": 79577,
      "geneSymbol": "CDC73",
      "hgvs": [
        "NM_024529.5:c.975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078805.3:p.Glu325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367435.5:c.975G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024529.5:c.975G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356405.4:p.Glu325="
          },
          "RefSeq": {
            "hgvs": "NP_078805.3:p.Glu325="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}