{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3214606",
  "communityStandardTitle": [
    "NM_020227.4(PRDM9):c.509-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3615194",
        "active": true,
        "id": "COSM3615194"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-23522412-G-A",
        "id": "5-23522412-G-A",
        "variant": "5:23522412 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.23522412G>A?assembly=hg19",
        "id": "chr5:g.23522412G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.23522303G>A?assembly=hg38",
        "id": "chr5:g.23522303G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766825981",
        "rs": 766825981
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-23522412-G-A?dataset=gnomad_r2_1",
        "id": "5-23522412-G-A",
        "variant": "5:23522412 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-23522303-G-A?dataset=gnomad_r3",
        "id": "5-23522303-G-A",
        "variant": "5:23522303 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-23522303-G-A?dataset=gnomad_r4",
        "id": "5-23522303-G-A",
        "variant": "5:23522303 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 23522303,
          "referenceAllele": "G",
          "start": 23522302
        }
      ],
      "hgvs": [
        "NC_000005.10:g.23522303G>A",
        "CM000667.2:g.23522303G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 23522412,
          "referenceAllele": "G",
          "start": 23522411
        }
      ],
      "hgvs": [
        "NC_000005.9:g.23522412G>A",
        "CM000667.1:g.23522412G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 23558169,
          "referenceAllele": "G",
          "start": 23558168
        }
      ],
      "hgvs": [
        "NC_000005.8:g.23558169G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 765,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "ENST00000502755.6:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425471.2:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "ENST00000296682.4:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296682.4:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296682.4:c.509-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020227.4:c.509-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296682.4:n.509-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_064612.2:n.509-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "ENST00000296682.3:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296682.3:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "ENST00000635252.1:c.332-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489227.1:n.332-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "NM_020227.2:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064612.2:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "NM_020227.3:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064612.2:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 765,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "NM_001376900.1:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363829.1:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013994",
      "geneNCBI_id": 56979,
      "geneSymbol": "PRDM9",
      "hgvs": [
        "NM_020227.4:c.509-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064612.2:n.509-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296682.4:c.509-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020227.4:c.509-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296682.4:n.509-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_064612.2:n.509-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}