{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393756621",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2265+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1864558[alleleid]",
        "alleleId": 1864558,
        "preferredName": "NM_002693.3(POLG):c.2265+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1807554",
        "RCV": [
          "RCV002475511",
          "RCV002571546",
          "RCV003985873"
        ],
        "variationId": 1807554
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89866634C>T?assembly=hg19",
        "id": "chr15:g.89866634C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89323403C>T?assembly=hg38",
        "id": "chr15:g.89323403C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052884",
        "rs": 796052884
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89323403,
          "referenceAllele": "C",
          "start": 89323402
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89323403C>T",
        "CM000677.2:g.89323403C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89866634,
          "referenceAllele": "C",
          "start": 89866633
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89866634C>T",
        "CM000677.1:g.89866634C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87667638,
          "referenceAllele": "C",
          "start": 87667637
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87667638C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16393,
          "referenceAllele": "G",
          "start": 16392
        }
      ],
      "hgvs": [
        "NG_008218.1:g.16393G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16393,
          "referenceAllele": "G",
          "start": 16392
        }
      ],
      "hgvs": [
        "NG_008218.2:g.16393G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3209,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3209,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2265+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2265+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.2265+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.2265+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1866,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.1866+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:n.1866+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2463,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2592,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2592,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*832+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*832+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 962,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.962+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.962+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1337+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1842,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1842,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.1842+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.585+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.585+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2463,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2463+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2368+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2601,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2601,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "endIntronDirection": "+",
          "endIntronOffset": 412,
          "referenceAllele": "G",
          "start": 539,
          "startIntronDirection": "+",
          "startIntronOffset": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526314.2:c.539+412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526398.1:c.414+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 34,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.34+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 24,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.24+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:n.24+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.467+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1689+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1689+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2535,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2535,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2547,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2547,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2265+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.2265+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2265+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2265+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.2265+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.2265+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}