{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10607040",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.1269T>A (p.Thr423=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275389[alleleid]",
        "alleleId": 275389,
        "preferredName": "NM_002693.3(POLG):c.1269T>A (p.Thr423=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291152",
        "RCV": [
          "RCV000282461",
          "RCV002061145"
        ],
        "variationId": 291152
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89870562A>T?assembly=hg19",
        "id": "chr15:g.89870562A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89327331A>T?assembly=hg38",
        "id": "chr15:g.89327331A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044670",
        "rs": 886044670
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89327331,
          "referenceAllele": "A",
          "start": 89327330
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89327331A>T",
        "CM000677.2:g.89327331A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89870562,
          "referenceAllele": "A",
          "start": 89870561
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89870562A>T",
        "CM000677.1:g.89870562A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87671566,
          "referenceAllele": "A",
          "start": 87671565
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87671566A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12465,
          "referenceAllele": "T",
          "start": 12464
        }
      ],
      "hgvs": [
        "NG_008218.1:g.12465T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12465,
          "referenceAllele": "T",
          "start": 12464
        }
      ],
      "hgvs": [
        "NG_008218.2:g.12465T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "T",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1269T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1269T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr423="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr423="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "T",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.870T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Thr290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "T",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "T",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:p.Thr2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.341T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.846T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.1467T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.1372T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1605,
          "referenceAllele": "T",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "referenceAllele": "T",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000532363.2:n.127T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "T",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*652T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*652T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1539,
          "referenceAllele": "T",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399040",
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "T",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "referenceAllele": "T",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829399040",
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "T",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.1269T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.1269T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr423="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr423="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}