{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409686544",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.3706G>C (p.Gly1236Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62326887G>C?assembly=hg19",
        "id": "chr20:g.62326887G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63695534G>C?assembly=hg38",
        "id": "chr20:g.63695534G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 63695534,
          "referenceAllele": "G",
          "start": 63695533
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63695534G>C",
        "CM000682.2:g.63695534G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 62326887,
          "referenceAllele": "G",
          "start": 62326886
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62326887G>C",
        "CM000682.1:g.62326887G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 61797331,
          "referenceAllele": "G",
          "start": 61797330
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61797331G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42725,
          "referenceAllele": "G",
          "start": 42724
        }
      ],
      "hgvs": [
        "NG_033901.1:g.42725G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3884,
          "referenceAllele": "G",
          "start": 3883
        }
      ],
      "hgvs": [
        "NG_046961.1:g.3884G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616498"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2453,
          "referenceAllele": "G",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000697815.1:n.2453G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4049,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4049,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.3724+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.3724+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.2983+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.2983+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.3706G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gly1236Arg",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gly1236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.3706G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.3706G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gly1236Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gly1236Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3717,
          "referenceAllele": "G",
          "start": 3716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.2:n.3717G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4200,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4200,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.2983+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:n.2983+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.3706G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gly1236Arg",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gly1236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370003.2:c.1441G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359020.1:p.Gly481Arg",
        "hgvsWellDefined": "ENSP00000359020.1:p.Gly481Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4479,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4479,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.3652+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:n.3652+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3737,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 3737,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.3737+54G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "G",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.3706G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Gly1236Arg",
        "hgvsWellDefined": "ENSP00000457868.1:p.Gly1236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3715,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 3715,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.*1254+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:n.*1254+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3188,
          "referenceAllele": "G",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.1:n.3188G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000496816.5:c.1638G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425576.1:n.1638G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4070,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4070,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.3724+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:n.3724+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573194588",
      "coordinates": [
        {
          "allele": "C",
          "end": 4533,
          "referenceAllele": "G",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.3706G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gly1236Arg",
        "hgvsWellDefined": "NP_001269938.1:p.Gly1236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4200,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4200,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.2983+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:n.2983+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4479,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4479,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.3652+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.3652+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4551,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4551,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.3724+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.3724+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4533,
          "referenceAllele": "G",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.4533G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573194588",
      "coordinates": [
        {
          "allele": "C",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.3706G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gly1236Arg",
        "hgvsWellDefined": "NP_001269938.1:p.Gly1236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.3706G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.3706G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gly1236Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gly1236Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3977,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 3977,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.3652+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.3652+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4049,
          "endIntronDirection": "+",
          "endIntronOffset": 54,
          "referenceAllele": "G",
          "start": 4049,
          "startIntronDirection": "+",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.3724+54G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.3724+54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}