{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4852837",
  "communityStandardTitle": [
    "NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5989825"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359708[alleleid]",
        "alleleId": 359708,
        "preferredName": "NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372619",
        "RCV": [
          "RCV000413657",
          "RCV000765986",
          "RCV001865286",
          "RCV002317885"
        ],
        "variationId": 372619
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-117864305-A-C",
        "id": "8-117864305-A-C",
        "variant": "8:117864305 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.117864305A>C?assembly=hg19",
        "id": "chr8:g.117864305A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.116852066A>C?assembly=hg38",
        "id": "chr8:g.116852066A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144953114",
        "rs": 144953114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-117864305-A-C?dataset=gnomad_r2_1",
        "id": "8-117864305-A-C",
        "variant": "8:117864305 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-116852066-A-C?dataset=gnomad_r3",
        "id": "8-116852066-A-C",
        "variant": "8:116852066 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-116852066-A-C?dataset=gnomad_r4",
        "id": "8-116852066-A-C",
        "variant": "8:116852066 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 116852066,
          "referenceAllele": "A",
          "start": 116852065
        }
      ],
      "hgvs": [
        "NC_000008.11:g.116852066A>C",
        "CM000670.2:g.116852066A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 117864305,
          "referenceAllele": "A",
          "start": 117864304
        }
      ],
      "hgvs": [
        "NC_000008.10:g.117864305A>C",
        "CM000670.1:g.117864305A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 117933486,
          "referenceAllele": "A",
          "start": 117933485
        }
      ],
      "hgvs": [
        "NC_000008.9:g.117933486A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27801,
          "referenceAllele": "T",
          "start": 27800
        }
      ],
      "hgvs": [
        "NG_032862.1:g.27801T>G",
        "LRG_772:g.27801T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005242"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000517485.6:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427923.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000427923.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "T",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000517749.2:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430273.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000430273.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "T",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000519837.6:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430524.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000430524.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1499,
          "referenceAllele": "T",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000520992.6:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429342.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000429342.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "referenceAllele": "T",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000522699.2:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428158.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000428158.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000523547.2:n.1462T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3141,
          "referenceAllele": "T",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000523986.6:n.3141T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000685972.1:n.1887T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "T",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000686622.1:n.1944T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4180,
          "referenceAllele": "T",
          "start": 4179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687122.1:n.4180T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "T",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687358.1:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509687.1:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000509687.1:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "T",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000687902.1:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510729.1:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000510729.1:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3410,
          "referenceAllele": "T",
          "start": 3409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000688033.1:n.3410T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1566,
          "referenceAllele": "T",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000689124.1:n.1566T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000689504.1:n.1462T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "T",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000690166.1:n.2199T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5155,
          "referenceAllele": "T",
          "start": 5154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000690189.1:n.5155T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000297338.7:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297338.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000297338.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297338.7:c.1352T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006265.3:c.1352T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297338.2:p.Leu451Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006256.1:p.Leu451Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1640,
          "referenceAllele": "T",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000297338.6:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297338.2:p.Leu451Arg",
        "hgvsWellDefined": "ENSP00000297338.2:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "T",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000518055.1:c.-14T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428003.1:n.-14T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 187,
          "referenceAllele": "T",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "ENST00000523986.5:c.-1317T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428513.1:n.-1317T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645455665",
      "coordinates": [
        {
          "allele": "G",
          "end": 1640,
          "referenceAllele": "T",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "NM_006265.2:c.1352T>G",
        "LRG_772t1:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006256.1:p.Leu451Arg",
        "hgvsWellDefined": "NP_006256.1:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645455665",
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009811",
      "geneNCBI_id": 5885,
      "geneSymbol": "RAD21",
      "hgvs": [
        "NM_006265.3:c.1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006256.1:p.Leu451Arg",
        "hgvsWellDefined": "NP_006256.1:p.Leu451Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696655",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297338.7:c.1352T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006265.3:c.1352T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297338.2:p.Leu451Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006256.1:p.Leu451Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}