{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA317511153",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1489779[alleleid]",
        "alleleId": 1489779,
        "preferredName": "NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1391061",
        "RCV": [
          "RCV001910903"
        ],
        "variationId": 1391061
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62319678A>G?assembly=hg19",
        "id": "chr20:g.62319678A>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62319678_62319683delinsGTGGGC?assembly=hg19",
        "id": "chr20:g.62319678_62319683delinsGTGGGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63688325A>G?assembly=hg38",
        "id": "chr20:g.63688325A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1046172136",
        "rs": 1046172136
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62319678-A-G?dataset=gnomad_r2_1",
        "id": "20-62319678-A-G",
        "variant": "20:62319678 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63688325-A-G?dataset=gnomad_r3",
        "id": "20-63688325-A-G",
        "variant": "20:63688325 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63688325-A-G?dataset=gnomad_r4",
        "id": "20-63688325-A-G",
        "variant": "20:63688325 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 63688325,
          "referenceAllele": "A",
          "start": 63688324
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63688325A>G",
        "CM000682.2:g.63688325A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 62319678,
          "referenceAllele": "A",
          "start": 62319677
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62319678A>G",
        "CM000682.1:g.62319678A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 61790122,
          "referenceAllele": "A",
          "start": 61790121
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61790122A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35516,
          "referenceAllele": "A",
          "start": 35515
        }
      ],
      "hgvs": [
        "NG_033901.1:g.35516A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "A",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.1335A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "A",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.1335A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Tyr578Cys",
        "hgvsWellDefined": "ENSP00000424307.2:p.Tyr578Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "A",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.1491A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "A",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Tyr331Cys",
        "hgvsWellDefined": "ENSP00000322287.5:p.Tyr331Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Tyr554Cys",
        "hgvsWellDefined": "ENSP00000353332.5:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Tyr554Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Tyr554Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:p.Tyr554Cys",
        "hgvsWellDefined": "ENSP00000457868.2:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "referenceAllele": "A",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.2:n.35A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Tyr331Cys",
        "hgvsWellDefined": "ENSP00000322287.5:p.Tyr331Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Tyr554Cys",
        "hgvsWellDefined": "ENSP00000353332.5:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Tyr554Cys",
        "hgvsWellDefined": "ENSP00000359035.3:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "referenceAllele": "A",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.1746A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "A",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Tyr554Cys",
        "hgvsWellDefined": "ENSP00000457868.1:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "A",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.1745A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:p.Tyr582Cys",
        "hgvsWellDefined": "ENSP00000457428.1:p.Tyr582Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "A",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Tyr578Cys",
        "hgvsWellDefined": "ENSP00000424307.2:p.Tyr578Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679450",
      "coordinates": [
        {
          "allele": "G",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Tyr554Cys",
        "hgvsWellDefined": "NP_001269938.1:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826680985",
      "coordinates": [
        {
          "allele": "G",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Tyr331Cys",
        "hgvsWellDefined": "NP_001269939.1:p.Tyr331Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835297",
      "coordinates": [
        {
          "allele": "G",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Tyr554Cys",
        "hgvsWellDefined": "NP_057518.1:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573293918",
      "coordinates": [
        {
          "allele": "G",
          "end": 2560,
          "referenceAllele": "A",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Tyr578Cys",
        "hgvsWellDefined": "NP_116575.3:p.Tyr578Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.2488A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679450",
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Tyr554Cys",
        "hgvsWellDefined": "NP_001269938.1:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Tyr554Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Tyr554Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835297",
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.1661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Tyr554Cys",
        "hgvsWellDefined": "NP_057518.1:p.Tyr554Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573293918",
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "A",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.1733A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Tyr578Cys",
        "hgvsWellDefined": "NP_116575.3:p.Tyr578Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}