{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4853021",
  "communityStandardTitle": [
    "NM_006265.3(RAD21):c.699T>C (p.Leu233=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2953943[alleleid]",
        "alleleId": 2953943,
        "preferredName": "NM_006265.3(RAD21):c.699T>C (p.Leu233=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2792811",
        "RCV": [
          "RCV003646092"
        ],
        "variationId": 2792811
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-117869000-A-G",
        "id": "8-117869000-A-G",
        "variant": "8:117869000 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.117869000A>G?assembly=hg19",
        "id": "chr8:g.117869000A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116856761A>G?assembly=hg38",
        "id": "chr8:g.116856761A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767640168",
        "rs": 767640168
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-117869000-A-G?dataset=gnomad_r2_1",
        "id": "8-117869000-A-G",
        "variant": "8:117869000 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-116856761-A-G?dataset=gnomad_r4",
        "id": "8-116856761-A-G",
        "variant": "8:116856761 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 116856761,
          "referenceAllele": "A",
          "start": 116856760
        }
      ],
      "hgvs": [
        "NC_000008.11:g.116856761A>G",
        "CM000670.2:g.116856761A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 117869000,
          "referenceAllele": "A",
          "start": 117868999
        }
      ],
      "hgvs": [
        "NC_000008.10:g.117869000A>G",
        "CM000670.1:g.117869000A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 117938181,
          "referenceAllele": "A",
          "start": 117938180
        }
      ],
      "hgvs": [
        "NC_000008.9:g.117938181A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23106,
          "referenceAllele": "T",
          "start": 23105
        }
      ],
      "hgvs": [
        "NG_032862.1:g.23106T>C",
        "LRG_772:g.23106T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005242"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000517485.6:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427923.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 839,
          "referenceAllele": "T",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000517749.2:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430273.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "referenceAllele": "T",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000519837.6:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430524.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000520992.6:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429342.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "T",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000522699.2:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428158.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "T",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000523547.2:n.809T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000523986.6:n.500T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "T",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000685972.1:n.782T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "T",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000686622.1:n.1291T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3527,
          "referenceAllele": "T",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687122.1:n.3527T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687358.1:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509687.1:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "T",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687902.1:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510729.1:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000688033.1:n.769T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000689124.1:n.913T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "T",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000689504.1:n.809T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "T",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000690166.1:n.1094T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2514,
          "referenceAllele": "T",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000690189.1:n.2514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000297338.7:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297338.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297338.7:c.699T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006265.3:c.699T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297338.2:p.Leu233="
          },
          "RefSeq": {
            "hgvs": "NP_006256.1:p.Leu233="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "referenceAllele": "T",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000297338.6:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297338.2:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829657226",
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "referenceAllele": "T",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "NM_006265.2:c.699T>C",
        "LRG_772t1:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006256.1:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829657226",
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "NM_006265.3:c.699T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006256.1:p.Leu233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297338.7:c.699T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006265.3:c.699T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297338.2:p.Leu233="
          },
          "RefSeq": {
            "hgvs": "NP_006256.1:p.Leu233="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}