{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393753749",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682359[alleleid]",
        "alleleId": 682359,
        "preferredName": "NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694429",
        "RCV": [
          "RCV000855760"
        ],
        "variationId": 694429
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89864425C>G?assembly=hg19",
        "id": "chr15:g.89864425C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89321194C>G?assembly=hg38",
        "id": "chr15:g.89321194C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763393580",
        "rs": 763393580
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89321194,
          "referenceAllele": "C",
          "start": 89321193
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89321194C>G",
        "CM000677.2:g.89321194C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89864425,
          "referenceAllele": "C",
          "start": 89864424
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89864425C>G",
        "CM000677.1:g.89864425C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87665429,
          "referenceAllele": "C",
          "start": 87665428
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87665429C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18602,
          "referenceAllele": "G",
          "start": 18601
        }
      ],
      "hgvs": [
        "NG_008218.1:g.18602G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18602,
          "referenceAllele": "G",
          "start": 18601
        }
      ],
      "hgvs": [
        "NG_008218.2:g.18602G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3609,
          "referenceAllele": "G",
          "start": 3608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Ala889Pro",
        "hgvsWellDefined": "ENSP00000516154.1:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Ala889Pro",
        "hgvsWellDefined": "ENSP00000268124.5:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2665G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2665G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Ala889Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Ala889Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2266,
          "referenceAllele": "G",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2266G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Ala756Pro",
        "hgvsWellDefined": "ENSP00000432885.2:p.Ala756Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2863,
          "referenceAllele": "G",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Ala889Pro",
        "hgvsWellDefined": "ENSP00000490653.2:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1232G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1232G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.1362G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.1362G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1737G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2242G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 768,
          "referenceAllele": "G",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.800+768G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.800+768G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2863,
          "referenceAllele": "G",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2863G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2607,
          "referenceAllele": "G",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2607G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Ala889Pro",
        "hgvsWellDefined": "ENSP00000268124.5:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "referenceAllele": "G",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Ala889Pro",
        "hgvsWellDefined": "ENSP00000399851.2:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.262G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 324,
          "referenceAllele": "G",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.186-325G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:n.186-325G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3167,
          "referenceAllele": "G",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2089G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2089G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621911",
      "coordinates": [
        {
          "allele": "C",
          "end": 2935,
          "referenceAllele": "G",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Ala889Pro",
        "hgvsWellDefined": "NP_001119603.1:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968709",
      "coordinates": [
        {
          "allele": "C",
          "end": 2947,
          "referenceAllele": "G",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Ala889Pro",
        "hgvsWellDefined": "NP_002684.1:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621911",
      "coordinates": [
        {
          "allele": "C",
          "end": 2964,
          "referenceAllele": "G",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Ala889Pro",
        "hgvsWellDefined": "NP_001119603.1:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968709",
      "coordinates": [
        {
          "allele": "C",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2665G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Ala889Pro",
        "hgvsWellDefined": "NP_002684.1:p.Ala889Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2665G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2665G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Ala889Pro"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Ala889Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}