{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA317509334",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.1349-771T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62318220T>C?assembly=hg19",
        "id": "chr20:g.62318220T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63686867T>C?assembly=hg38",
        "id": "chr20:g.63686867T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4809324",
        "rs": 4809324
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62318220-T-C?dataset=gnomad_r2_1",
        "id": "20-62318220-T-C",
        "variant": "20:62318220 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63686867-T-C?dataset=gnomad_r3",
        "id": "20-63686867-T-C",
        "variant": "20:63686867 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63686867-T-C?dataset=gnomad_r4",
        "id": "20-63686867-T-C",
        "variant": "20:63686867 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 63686867,
          "referenceAllele": "T",
          "start": 63686866
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63686867T>C",
        "CM000682.2:g.63686867T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 62318220,
          "referenceAllele": "T",
          "start": 62318219
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62318220T>C",
        "CM000682.1:g.62318220T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 61788664,
          "referenceAllele": "T",
          "start": 61788663
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61788664T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34058,
          "referenceAllele": "T",
          "start": 34057
        }
      ],
      "hgvs": [
        "NG_033901.1:g.34058T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.1023-771T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.1023-771T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.1421-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.1421-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.1179-771T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1392,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.680-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.680-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1349-771T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1349-771T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:n.1349-771T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:n.1349-771T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1670,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1896,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.680-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.680-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "referenceAllele": "T",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.497T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1348,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1348,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1535,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.1433-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:n.1433-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1766,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.1421-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.1421-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1896,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.680-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:n.680-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2247,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 2247,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.1421-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.1421-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.2176-771T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1349-771T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1349-771T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:n.1349-771T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:n.1349-771T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1673,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.1349-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.1349-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "endIntronDirection": "-",
          "endIntronOffset": 770,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "-",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.1421-771T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.1421-771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}