{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2194547829",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2864A= (p.Tyr955=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994099",
        "rs": 113994099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89320883,
          "referenceAllele": "T",
          "start": 89320882
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89320883T=",
        "CM000677.2:g.89320883T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89864114,
          "referenceAllele": "T",
          "start": 89864113
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89864114T=",
        "CM000677.1:g.89864114T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87665118,
          "referenceAllele": "T",
          "start": 87665117
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87665118T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18913,
          "referenceAllele": "A",
          "start": 18912
        }
      ],
      "hgvs": [
        "NG_008218.1:g.18913A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18913,
          "referenceAllele": "A",
          "start": 18912
        }
      ],
      "hgvs": [
        "NG_008218.2:g.18913A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3808,
          "referenceAllele": "A",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "referenceAllele": "A",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2864A="
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2864A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Tyr955="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Tyr955="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "A",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2465A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Tyr822="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3062,
          "referenceAllele": "A",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3191,
          "referenceAllele": "A",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1431A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1431A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "A",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.1673A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.1673A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "A",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1936A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2441A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 1079,
          "referenceAllele": "A",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.800+1079A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.800+1079A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3062,
          "referenceAllele": "A",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3062A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "A",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.41A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2806,
          "referenceAllele": "A",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2806A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3198,
          "referenceAllele": "A",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3200,
          "referenceAllele": "A",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "A",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.461A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.186-14A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:n.186-14A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3366,
          "referenceAllele": "A",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2288A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2288A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622061",
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "A",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399860",
      "coordinates": [
        {
          "allele": "A",
          "end": 3146,
          "referenceAllele": "A",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622061",
      "coordinates": [
        {
          "allele": "A",
          "end": 3163,
          "referenceAllele": "A",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399860",
      "coordinates": [
        {
          "allele": "A",
          "end": 3175,
          "referenceAllele": "A",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Tyr955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2864A="
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2864A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Tyr955="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Tyr955="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}