{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3826909",
  "communityStandardTitle": [
    "NM_006502.3(POLH):c.229C>T (p.Leu77=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=896377[alleleid]",
        "alleleId": 896377,
        "preferredName": "NM_006502.3(POLH):c.229C>T (p.Leu77=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/911727",
        "RCV": [
          "RCV001164354",
          "RCV003558732"
        ],
        "variationId": 911727
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43550835-C-T",
        "id": "6-43550835-C-T",
        "variant": "6:43550835 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43550835C>T?assembly=hg19",
        "id": "chr6:g.43550835C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43583098C>T?assembly=hg38",
        "id": "chr6:g.43583098C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199840329",
        "rs": 199840329
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43550835-C-T?dataset=gnomad_r2_1",
        "id": "6-43550835-C-T",
        "variant": "6:43550835 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43583098-C-T?dataset=gnomad_r3",
        "id": "6-43583098-C-T",
        "variant": "6:43583098 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43583098-C-T?dataset=gnomad_r4",
        "id": "6-43583098-C-T",
        "variant": "6:43583098 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43583098,
          "referenceAllele": "C",
          "start": 43583097
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43583098C>T",
        "CM000668.2:g.43583098C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43550835,
          "referenceAllele": "C",
          "start": 43550834
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43550835C>T",
        "CM000668.1:g.43550835C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43658813,
          "referenceAllele": "C",
          "start": 43658812
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43658813C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11958,
          "referenceAllele": "C",
          "start": 11957
        }
      ],
      "hgvs": [
        "NG_009252.1:g.11958C>T",
        "LRG_470:g.11958C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001522"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "ENST00000372236.9:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361310.4:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Leu77="
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Leu77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "ENST00000372226.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361300.1:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "ENST00000372236.8:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361310.4:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "ENST00000443535.1:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405320.1:p.Leu15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815035",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291969.1:c.75C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278898.1:p.Tyr25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024404"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815238",
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291970.1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278899.1:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667905",
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_006502.2:c.229C>T",
        "LRG_470t1:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_005249186.2:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249243.1:p.Leu15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.1:c.75C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:p.Tyr25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_005249186.4:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249243.1:p.Leu15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_011514698.3:c.75C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513000.1:p.Tyr25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446466.1:c.-2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302234.1:n.-2775C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "XM_024446467.1:c.-391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302235.1:n.-391C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815035",
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291969.2:c.75C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278898.1:p.Tyr25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826815238",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_001291970.2:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278899.1:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667905",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009181",
      "geneNCBI_id": 5429,
      "geneSymbol": "POLH",
      "hgvs": [
        "NM_006502.3:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Leu77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Leu77="
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Leu77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 53827,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 53826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+53827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+53827C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}