{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9964335",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.539-6C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=940513[alleleid]",
        "alleleId": 940513,
        "preferredName": "NM_001283009.2(RTEL1):c.539-6C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/937455",
        "RCV": [
          "RCV001206466",
          "RCV001833812"
        ],
        "variationId": 937455
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62297351-C-A",
        "id": "20-62297351-C-A",
        "variant": "20:62297351 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62297351C>A?assembly=hg19",
        "id": "chr20:g.62297351C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63665998C>A?assembly=hg38",
        "id": "chr20:g.63665998C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778544732",
        "rs": 778544732
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62297351-C-A?dataset=gnomad_r2_1",
        "id": "20-62297351-C-A",
        "variant": "20:62297351 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63665998-C-A?dataset=gnomad_r3",
        "id": "20-63665998-C-A",
        "variant": "20:63665998 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63665998-C-A?dataset=gnomad_r4",
        "id": "20-63665998-C-A",
        "variant": "20:63665998 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 63665998,
          "referenceAllele": "C",
          "start": 63665997
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63665998C>A",
        "CM000682.2:g.63665998C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 62297351,
          "referenceAllele": "C",
          "start": 62297350
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62297351C>A",
        "CM000682.1:g.62297351C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 61767795,
          "referenceAllele": "C",
          "start": 61767794
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61767795C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13189,
          "referenceAllele": "C",
          "start": 13188
        }
      ],
      "hgvs": [
        "NG_033901.1:g.13189C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.213-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.213-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 935,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.611-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.611-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000684971.1:n.970-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000686756.1:n.857-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.369-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 976,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000692658.1:n.977-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1265,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000692911.1:n.1266-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 582,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.-131-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.-131-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.539-6C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.539-6C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:n.539-6C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:n.539-6C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1086,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.-131-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.-131-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 958,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000356810.5:c.689-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349265.4:n.689-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 235,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000463361.1:n.236-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 956,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.611-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.611-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1086,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.-131-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:n.-131-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1437,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.611-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.611-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.1366-6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.539-6C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.539-6C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:n.539-6C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:n.539-6C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.539-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.539-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 935,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.611-6C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.611-6C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}