{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9964466",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1107186[alleleid]",
        "alleleId": 1107186,
        "preferredName": "NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1114165",
        "RCV": [
          "RCV001441796",
          "RCV002256779"
        ],
        "variationId": 1114165
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62305396-C-T",
        "id": "20-62305396-C-T",
        "variant": "20:62305396 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62305396C>T?assembly=hg19",
        "id": "chr20:g.62305396C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63674043C>T?assembly=hg38",
        "id": "chr20:g.63674043C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202157063",
        "rs": 202157063
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62305396-C-T?dataset=gnomad_r2_1",
        "id": "20-62305396-C-T",
        "variant": "20:62305396 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63674043-C-T?dataset=gnomad_r3",
        "id": "20-63674043-C-T",
        "variant": "20:63674043 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63674043-C-T?dataset=gnomad_r4",
        "id": "20-63674043-C-T",
        "variant": "20:63674043 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 63674043,
          "referenceAllele": "C",
          "start": 63674042
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63674043C>T",
        "CM000682.2:g.63674043C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62305396,
          "referenceAllele": "C",
          "start": 62305395
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62305396C>T",
        "CM000682.1:g.62305396C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 61775840,
          "referenceAllele": "C",
          "start": 61775839
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61775840C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21234,
          "referenceAllele": "C",
          "start": 21233
        }
      ],
      "hgvs": [
        "NG_033901.1:g.21234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Ala314Val",
        "hgvsWellDefined": "ENSP00000424307.2:p.Ala314Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000684971.1:n.1300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000686756.1:n.1187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.699C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000692658.1:n.1307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000692911.1:n.1596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Ala67Val",
        "hgvsWellDefined": "ENSP00000322287.5:p.Ala67Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000353332.5:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.869C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.869C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Ala290Val"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Ala290Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000457868.2:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Ala67Val",
        "hgvsWellDefined": "ENSP00000322287.5:p.Ala67Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000356810.5:c.1019C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349265.4:p.Ala340Val",
        "hgvsWellDefined": "ENSP00000349265.4:p.Ala340Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000353332.5:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000359035.3:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000463361.1:n.566C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000457868.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:p.Ala290Val",
        "hgvsWellDefined": "ENSP00000457428.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Ala314Val",
        "hgvsWellDefined": "ENSP00000424307.2:p.Ala314Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Ala290Val",
        "hgvsWellDefined": "NP_001269938.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499245471",
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.200C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Ala67Val",
        "hgvsWellDefined": "NP_001269939.1:p.Ala67Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829834880",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Ala290Val",
        "hgvsWellDefined": "NP_057518.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830106672",
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Ala314Val",
        "hgvsWellDefined": "NP_116575.3:p.Ala314Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.1696C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Ala290Val",
        "hgvsWellDefined": "NP_001269938.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.869C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.869C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Ala290Val"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Ala290Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829834880",
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Ala290Val",
        "hgvsWellDefined": "NP_057518.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830106672",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Ala314Val",
        "hgvsWellDefined": "NP_116575.3:p.Ala314Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}