{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393750072",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835099[alleleid]",
        "alleleId": 2835099,
        "preferredName": "NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677954",
        "RCV": [
          "RCV003463336"
        ],
        "variationId": 2677954
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89861943G>C?assembly=hg19",
        "id": "chr15:g.89861943G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89318712G>C?assembly=hg38",
        "id": "chr15:g.89318712G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1010372555",
        "rs": 1010372555
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89861943-G-C?dataset=gnomad_r2_1",
        "id": "15-89861943-G-C",
        "variant": "15:89861943 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89318712,
          "referenceAllele": "G",
          "start": 89318711
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89318712G>C",
        "CM000677.2:g.89318712G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89861943,
          "referenceAllele": "G",
          "start": 89861942
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89861943G>C",
        "CM000677.1:g.89861943G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87662947,
          "referenceAllele": "G",
          "start": 87662946
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87662947G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21084,
          "referenceAllele": "C",
          "start": 21083
        }
      ],
      "hgvs": [
        "NG_008218.1:g.21084C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79750,
          "referenceAllele": "G",
          "start": 79749
        }
      ],
      "hgvs": [
        "NG_011736.1:g.79750G>C",
        "LRG_500:g.79750G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21084,
          "referenceAllele": "C",
          "start": 21083
        }
      ],
      "hgvs": [
        "NG_008218.2:g.21084C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4255,
          "referenceAllele": "C",
          "start": 4254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Ser1104Cys",
        "hgvsWellDefined": "ENSP00000516154.1:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Ser1104Cys",
        "hgvsWellDefined": "ENSP00000268124.5:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3311C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3311C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Ser1104Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Ser1104Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2912C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Ser971Cys",
        "hgvsWellDefined": "ENSP00000432885.2:p.Ser971Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3567,
          "referenceAllele": "C",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*381C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*381C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3638,
          "referenceAllele": "C",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1878C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1878C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2120,
          "referenceAllele": "C",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.2120C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.2120C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2383C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2888,
          "referenceAllele": "C",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2888C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3509,
          "referenceAllele": "C",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3509C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.488C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3311,
          "referenceAllele": "C",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3311C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3645,
          "referenceAllele": "C",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Ser1104Cys",
        "hgvsWellDefined": "ENSP00000268124.5:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Ser1104Cys",
        "hgvsWellDefined": "ENSP00000399851.2:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.395C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:p.Ser132Cys",
        "hgvsWellDefined": "ENSP00000432885.1:p.Ser132Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3813,
          "referenceAllele": "C",
          "start": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2735C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2735C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102200",
      "coordinates": [
        {
          "allele": "G",
          "end": 3581,
          "referenceAllele": "C",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Ser1104Cys",
        "hgvsWellDefined": "NP_001119603.1:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741894136",
      "coordinates": [
        {
          "allele": "G",
          "end": 3593,
          "referenceAllele": "C",
          "start": 3592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Ser1104Cys",
        "hgvsWellDefined": "NP_002684.1:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102200",
      "coordinates": [
        {
          "allele": "G",
          "end": 3610,
          "referenceAllele": "C",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Ser1104Cys",
        "hgvsWellDefined": "NP_001119603.1:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741894136",
      "coordinates": [
        {
          "allele": "G",
          "end": 3622,
          "referenceAllele": "C",
          "start": 3621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Ser1104Cys",
        "hgvsWellDefined": "NP_002684.1:p.Ser1104Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3311C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3311C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Ser1104Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Ser1104Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}