{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9965149",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1704417[alleleid]",
        "alleleId": 1704417,
        "preferredName": "NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1706103",
        "RCV": [
          "RCV002284633",
          "RCV003097666",
          "RCV002416554",
          "RCV004545279"
        ],
        "variationId": 1706103
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-62321117-G-T",
        "id": "20-62321117-G-T",
        "variant": "20:62321117 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62321117G>T?assembly=hg19",
        "id": "chr20:g.62321117G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63689764G>T?assembly=hg38",
        "id": "chr20:g.63689764G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144568600",
        "rs": 144568600
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62321117-G-T?dataset=gnomad_r2_1",
        "id": "20-62321117-G-T",
        "variant": "20:62321117 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63689764-G-T?dataset=gnomad_r3",
        "id": "20-63689764-G-T",
        "variant": "20:63689764 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-63689764-G-T?dataset=gnomad_r4",
        "id": "20-63689764-G-T",
        "variant": "20:63689764 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 63689764,
          "referenceAllele": "G",
          "start": 63689763
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63689764G>T",
        "CM000682.2:g.63689764G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62321117,
          "referenceAllele": "G",
          "start": 62321116
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62321117G>T",
        "CM000682.1:g.62321117G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 61791561,
          "referenceAllele": "G",
          "start": 61791560
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61791561G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36955,
          "referenceAllele": "G",
          "start": 36954
        }
      ],
      "hgvs": [
        "NG_033901.1:g.36955G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.1567G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.1567G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000697814.1:n.230G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Gln704His",
        "hgvsWellDefined": "ENSP00000424307.2:p.Gln704His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.1723G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.1371G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Gln457His",
        "hgvsWellDefined": "ENSP00000322287.5:p.Gln457His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gln680His",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.2040G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.2040G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gln680His"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gln680His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:p.Gln680His",
        "hgvsWellDefined": "ENSP00000457868.2:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.2:n.863G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.1371G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Gln457His",
        "hgvsWellDefined": "ENSP00000322287.5:p.Gln457His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gln680His",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Gln680His",
        "hgvsWellDefined": "ENSP00000359035.3:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.5:c.219G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388063.1:p.Gln73His",
        "hgvsWellDefined": "ENSP00000388063.1:p.Gln73His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000480273.5:n.2125G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Gln680His",
        "hgvsWellDefined": "ENSP00000457868.1:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2227,
          "referenceAllele": "G",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.2124G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:p.Gln708His",
        "hgvsWellDefined": "ENSP00000457428.1:p.Gln708His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000496281.1:n.334G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "G",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Gln704His",
        "hgvsWellDefined": "ENSP00000424307.2:p.Gln704His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679610",
      "coordinates": [
        {
          "allele": "T",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gln680His",
        "hgvsWellDefined": "NP_001269938.1:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826681149",
      "coordinates": [
        {
          "allele": "T",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.1371G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Gln457His",
        "hgvsWellDefined": "NP_001269939.1:p.Gln457His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835541",
      "coordinates": [
        {
          "allele": "T",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Gln680His",
        "hgvsWellDefined": "NP_057518.1:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580465158",
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "referenceAllele": "G",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Gln704His",
        "hgvsWellDefined": "NP_116575.3:p.Gln704His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.2867G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679610",
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gln680His",
        "hgvsWellDefined": "NP_001269938.1:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.2040G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.2040G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gln680His"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gln680His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829835541",
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.2040G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Gln680His",
        "hgvsWellDefined": "NP_057518.1:p.Gln680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580465158",
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Gln704His",
        "hgvsWellDefined": "NP_116575.3:p.Gln704His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}