{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6479136",
  "communityStandardTitle": [
    "NM_002907.4(RECQL):c.304G>A (p.Val102Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=504326[alleleid]",
        "alleleId": 504326,
        "preferredName": "NM_002907.4(RECQL):c.304G>A (p.Val102Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/506629",
        "RCV": [
          "RCV000605901",
          "RCV001514375"
        ],
        "variationId": 506629
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-21643223-C-T",
        "id": "12-21643223-C-T",
        "variant": "12:21643223 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21643223C>T?assembly=hg19",
        "id": "chr12:g.21643223C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21490289C>T?assembly=hg38",
        "id": "chr12:g.21490289C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1065751",
        "rs": 1065751
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21643223-C-T?dataset=gnomad_r2_1",
        "id": "12-21643223-C-T",
        "variant": "12:21643223 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21490289-C-T?dataset=gnomad_r3",
        "id": "12-21490289-C-T",
        "variant": "12:21490289 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21490289-C-T?dataset=gnomad_r4",
        "id": "12-21490289-C-T",
        "variant": "12:21490289 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 21490289,
          "referenceAllele": "C",
          "start": 21490288
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21490289C>T",
        "CM000674.2:g.21490289C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 21643223,
          "referenceAllele": "C",
          "start": 21643222
        }
      ],
      "hgvs": [
        "NC_000012.11:g.21643223C>T",
        "CM000674.1:g.21643223C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 21534490,
          "referenceAllele": "C",
          "start": 21534489
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21534490C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000444129.7:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416739.2:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000416739.2:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444129.7:c.304G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002907.4:c.304G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416739.2:p.Val102Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002898.2:p.Val102Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000314748.10:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318727.6:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000318727.6:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000396093.7:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379400.3:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000379400.3:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000421138.6:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395449.2:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000395449.2:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000444129.6:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416739.2:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000416739.2:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000536240.5:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439069.1:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000439069.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "ENST00000542432.5:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445555.1:p.Val102Ile",
        "hgvsWellDefined": "ENSP00000445555.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806343",
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "NM_002907.3:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002898.2:p.Val102Ile",
        "hgvsWellDefined": "NP_002898.2:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073435",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "NM_032941.2:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116559.1:p.Val102Ile",
        "hgvsWellDefined": "NP_116559.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253461.3:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253518.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253518.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253462.3:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253519.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253519.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253463.2:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253520.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253520.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253464.2:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253521.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253521.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_006719133.2:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719196.1:p.Val102Ile",
        "hgvsWellDefined": "XP_006719196.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_011520811.1:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519113.1:p.Val102Ile",
        "hgvsWellDefined": "XP_011519113.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253462.5:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253519.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253519.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253463.4:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253520.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253520.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "XM_005253464.4:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253521.1:p.Val102Ile",
        "hgvsWellDefined": "XP_005253521.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533971"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806343",
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "NM_002907.4:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002898.2:p.Val102Ile",
        "hgvsWellDefined": "NP_002898.2:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444129.7:c.304G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002907.4:c.304G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416739.2:p.Val102Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002898.2:p.Val102Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073435",
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "NM_032941.3:c.304G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116559.1:p.Val102Ile",
        "hgvsWellDefined": "NP_116559.1:p.Val102Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728888"
    }
  ],
  "type": "nucleotide"
}