{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602262",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610721[alleleid]",
        "alleleId": 610721,
        "preferredName": "NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/619336",
        "RCV": [
          "RCV001121334",
          "RCV000758324"
        ],
        "variationId": 619336
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89862206A>C?assembly=hg19",
        "id": "chr15:g.89862206A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89318975A>C?assembly=hg38",
        "id": "chr15:g.89318975A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567185468",
        "rs": 1567185468
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89318975-A-C?dataset=gnomad_r4",
        "id": "15-89318975-A-C",
        "variant": "15:89318975 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89318975,
          "referenceAllele": "A",
          "start": 89318974
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89318975A>C",
        "CM000677.2:g.89318975A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89862206,
          "referenceAllele": "A",
          "start": 89862205
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89862206A>C",
        "CM000677.1:g.89862206A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87663210,
          "referenceAllele": "A",
          "start": 87663209
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87663210A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20821,
          "referenceAllele": "T",
          "start": 20820
        }
      ],
      "hgvs": [
        "NG_008218.1:g.20821T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80013,
          "referenceAllele": "A",
          "start": 80012
        }
      ],
      "hgvs": [
        "NG_011736.1:g.80013A>C",
        "LRG_500:g.80013A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20821,
          "referenceAllele": "T",
          "start": 20820
        }
      ],
      "hgvs": [
        "NG_008218.2:g.20821T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4173,
          "referenceAllele": "T",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Cys1077Gly",
        "hgvsWellDefined": "ENSP00000516154.1:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3540,
          "referenceAllele": "T",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Cys1077Gly",
        "hgvsWellDefined": "ENSP00000268124.5:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3229T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3229T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Cys1077Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Cys1077Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2830,
          "referenceAllele": "T",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2830T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Cys944Gly",
        "hgvsWellDefined": "ENSP00000432885.2:p.Cys944Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3485,
          "referenceAllele": "T",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*299T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*299T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3556,
          "referenceAllele": "T",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1796T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1796T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2038,
          "referenceAllele": "T",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.2038T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.2038T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "referenceAllele": "T",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2301T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2806,
          "referenceAllele": "T",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2806T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3427,
          "referenceAllele": "T",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3427T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.406T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "T",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3229T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3563,
          "referenceAllele": "T",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Cys1077Gly",
        "hgvsWellDefined": "ENSP00000268124.5:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3565,
          "referenceAllele": "T",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Cys1077Gly",
        "hgvsWellDefined": "ENSP00000399851.2:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.313T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:p.Cys105Gly",
        "hgvsWellDefined": "ENSP00000432885.1:p.Cys105Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3731,
          "referenceAllele": "T",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2653T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2653T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622362",
      "coordinates": [
        {
          "allele": "G",
          "end": 3499,
          "referenceAllele": "T",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Cys1077Gly",
        "hgvsWellDefined": "NP_001119603.1:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193642",
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "T",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Cys1077Gly",
        "hgvsWellDefined": "NP_002684.1:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622362",
      "coordinates": [
        {
          "allele": "G",
          "end": 3528,
          "referenceAllele": "T",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Cys1077Gly",
        "hgvsWellDefined": "NP_001119603.1:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913193642",
      "coordinates": [
        {
          "allele": "G",
          "end": 3540,
          "referenceAllele": "T",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3229T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Cys1077Gly",
        "hgvsWellDefined": "NP_002684.1:p.Cys1077Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3229T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3229T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Cys1077Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Cys1077Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}