{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406980028",
  "communityStandardTitle": [
    "NM_002691.4(POLD1):c.1394G>T (p.Arg465Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50909674G>T?assembly=hg19",
        "id": "chr19:g.50909674G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50406417G>T?assembly=hg38",
        "id": "chr19:g.50406417G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199700312",
        "rs": 199700312
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50406417-G-T?dataset=gnomad_r4",
        "id": "19-50406417-G-T",
        "variant": "19:50406417 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50406417,
          "referenceAllele": "G",
          "start": 50406416
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50406417G>T",
        "CM000681.2:g.50406417G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50909674,
          "referenceAllele": "G",
          "start": 50909673
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50909674G>T",
        "CM000681.1:g.50909674G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55601486,
          "referenceAllele": "G",
          "start": 55601485
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55601486G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27095,
          "referenceAllele": "G",
          "start": 27094
        }
      ],
      "hgvs": [
        "NG_033800.1:g.27095G>T",
        "LRG_785:g.27095G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000593887.2:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472607.2:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000472607.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600746.2:n.1585G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.2:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495618.2:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000495618.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000687454.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510052.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000510052.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.7:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000406046.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.1394G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.1394G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg465Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg465Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.6:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000472445.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.7:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000473052.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000601098.6:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472600.2:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000472600.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "G",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.6:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.2:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000481858.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000643407.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496078.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000496078.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000644560.1:c.265G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000440232.6:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406046.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000406046.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000595904.5:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472445.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000472445.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000599857.5:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473052.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000473052.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000600859.5:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470726.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000470726.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "ENST00000613923.4:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481858.1:p.Arg465Leu",
        "hgvsWellDefined": "ENSP00000481858.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001256849.1:c.1394G>T",
        "LRG_785t1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243778.1:p.Arg465Leu",
        "hgvsWellDefined": "NP_001243778.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_001308632.1:c.1394G>T",
        "LRG_785t2:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295561.1:p.Arg465Leu",
        "hgvsWellDefined": "NP_001295561.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085934927",
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.3:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg465Leu",
        "hgvsWellDefined": "NP_002682.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.1:n.1463G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.3:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_005259065.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "G",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527038.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525340.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_011525340.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_011527039.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525341.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_011525341.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.1:n.1496G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_005259008.4:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259065.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_005259065.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "G",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026881.1:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882370.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_016882370.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XM_017026882.2:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882371.1:p.Arg465Leu",
        "hgvsWellDefined": "XP_016882371.1:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "XR_935835.2:n.1495G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085934927",
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NM_002691.4:c.1394G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002682.2:p.Arg465Leu",
        "hgvsWellDefined": "NP_002682.2:p.Arg465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440232.7:c.1394G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002691.4:c.1394G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406046.1:p.Arg465Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002682.2:p.Arg465Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009175",
      "geneNCBI_id": 5424,
      "geneSymbol": "POLD1",
      "hgvs": [
        "NR_046402.2:n.1439G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702488"
    }
  ],
  "type": "nucleotide"
}