{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16242419",
  "communityStandardTitle": [
    "NM_005732.4(RAD50):c.3475+285A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1272290[alleleid]",
        "alleleId": 1272290,
        "preferredName": "NM_005732.4(RAD50):c.3475+285A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1282436",
        "RCV": [
          "RCV001695828"
        ],
        "variationId": 1282436
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131973177A>G?assembly=hg19",
        "id": "chr5:g.131973177A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132637485A>G?assembly=hg38",
        "id": "chr5:g.132637485A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2040704",
        "rs": 2040704
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131973177-A-G?dataset=gnomad_r2_1",
        "id": "5-131973177-A-G",
        "variant": "5:131973177 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132637485-A-G?dataset=gnomad_r3",
        "id": "5-132637485-A-G",
        "variant": "5:132637485 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132637485-A-G?dataset=gnomad_r4",
        "id": "5-132637485-A-G",
        "variant": "5:132637485 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132637485,
          "referenceAllele": "A",
          "start": 132637484
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132637485A>G",
        "CM000667.2:g.132637485A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131973177,
          "referenceAllele": "A",
          "start": 131973176
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131973177A>G",
        "CM000667.1:g.131973177A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132001076,
          "referenceAllele": "A",
          "start": 132001075
        }
      ],
      "hgvs": [
        "NC_000005.8:g.132001076A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85562,
          "referenceAllele": "A",
          "start": 85561
        }
      ],
      "hgvs": [
        "NG_021151.1:g.85562A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85509,
          "referenceAllele": "A",
          "start": 85508
        }
      ],
      "hgvs": [
        "NG_021151.2:g.85509A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706126"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3823,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3823,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.8:c.3475+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:n.3475+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.3475+285A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.3475+285A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:n.3475+285A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:n.3475+285A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3714,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3714,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "hgvs": [
        "ENST00000638452.2:c.3178+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492349.2:n.3178+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3083,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3083,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "hgvs": [
        "ENST00000638504.1:n.3083+285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3777,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3777,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "hgvs": [
        "ENST00000638568.2:c.3178+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491158.2:n.3178+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3994,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3994,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "hgvs": [
        "ENST00000639899.1:n.3994+285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3853,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3853,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "hgvs": [
        "ENST00000640655.2:c.3178+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491596.2:n.3178+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651249.1:c.311+285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3862,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3862,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.7:c.3475+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:n.3475+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000455677.1:c.110+285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3797,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3797,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000533482.5:c.*3101+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431225.1:n.*3101+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3876,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3876,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.3:c.3475+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:n.3475+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 673,
          "referenceAllele": "T",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040495",
      "geneNCBI_id": 101927761,
      "geneSymbol": "TH2LCRR",
      "hgvs": [
        "NR_132124.1:n.153+673T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3823,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "A",
          "start": 3823,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.4:c.3475+285A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:n.3475+285A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.3475+285A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.3475+285A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:n.3475+285A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:n.3475+285A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}