{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602232",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.2555G>A (p.Arg852His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610750[alleleid]",
        "alleleId": 610750,
        "preferredName": "NM_002693.3(POLG):c.2555G>A (p.Arg852His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/619418",
        "RCV": [
          "RCV000758450"
        ],
        "variationId": 619418
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89865010C>T?assembly=hg19",
        "id": "chr15:g.89865010C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89321779C>T?assembly=hg38",
        "id": "chr15:g.89321779C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567187093",
        "rs": 1567187093
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89321779-C-T?dataset=gnomad_r4",
        "id": "15-89321779-C-T",
        "variant": "15:89321779 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89321779,
          "referenceAllele": "C",
          "start": 89321778
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89321779C>T",
        "CM000677.2:g.89321779C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89865010,
          "referenceAllele": "C",
          "start": 89865009
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89865010C>T",
        "CM000677.1:g.89865010C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87666014,
          "referenceAllele": "C",
          "start": 87666013
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87666014C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18017,
          "referenceAllele": "G",
          "start": 18016
        }
      ],
      "hgvs": [
        "NG_008218.1:g.18017G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18017,
          "referenceAllele": "G",
          "start": 18016
        }
      ],
      "hgvs": [
        "NG_008218.2:g.18017G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Arg852His",
        "hgvsWellDefined": "ENSP00000516154.1:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2866,
          "referenceAllele": "G",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Arg852His",
        "hgvsWellDefined": "ENSP00000268124.5:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2555G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2555G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Arg852His"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Arg852His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2156G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Arg719His",
        "hgvsWellDefined": "ENSP00000432885.2:p.Arg719His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Arg852His",
        "hgvsWellDefined": "ENSP00000490653.2:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2882,
          "referenceAllele": "G",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.1252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.1627G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2132G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 183,
          "referenceAllele": "G",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000670281.1:c.800+183G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499709.1:n.800+183G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.2753G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2497,
          "referenceAllele": "G",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.2497G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2889,
          "referenceAllele": "G",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Arg852His",
        "hgvsWellDefined": "ENSP00000268124.5:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2891,
          "referenceAllele": "G",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Arg852His",
        "hgvsWellDefined": "ENSP00000399851.2:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "G",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000528881.2:c.196-519G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530715.5:c.186-910G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431395.1:n.186-910G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532584.5:n.704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3057,
          "referenceAllele": "G",
          "start": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*1979G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*1979G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621812",
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "G",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Arg852His",
        "hgvsWellDefined": "NP_001119603.1:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193577",
      "coordinates": [
        {
          "allele": "A",
          "end": 2837,
          "referenceAllele": "G",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Arg852His",
        "hgvsWellDefined": "NP_002684.1:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825621812",
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Arg852His",
        "hgvsWellDefined": "NP_001119603.1:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193577",
      "coordinates": [
        {
          "allele": "A",
          "end": 2866,
          "referenceAllele": "G",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.2555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Arg852His",
        "hgvsWellDefined": "NP_002684.1:p.Arg852His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.2555G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.2555G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Arg852His"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Arg852His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}