{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393766992",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.751A>T (p.Thr251Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89873416T>A?assembly=hg19",
        "id": "chr15:g.89873416T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89330185T>A?assembly=hg38",
        "id": "chr15:g.89330185T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89330185,
          "referenceAllele": "T",
          "start": 89330184
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89330185T>A",
        "CM000677.2:g.89330185T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89873416,
          "referenceAllele": "T",
          "start": 89873415
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89873416T>A",
        "CM000677.1:g.89873416T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87674420,
          "referenceAllele": "T",
          "start": 87674419
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87674420T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9611,
          "referenceAllele": "A",
          "start": 9610
        }
      ],
      "hgvs": [
        "NG_008218.1:g.9611A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9611,
          "referenceAllele": "A",
          "start": 9610
        }
      ],
      "hgvs": [
        "NG_008218.2:g.9611A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000516154.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "A",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000268124.5:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.751A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.751A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr251Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr251Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "A",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.352A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Thr118Ser",
        "hgvsWellDefined": "ENSP00000432885.2:p.Thr118Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000490653.2:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "A",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000489799.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "A",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.408A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 949,
          "referenceAllele": "A",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.949A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "A",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000268124.5:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Thr251Ser",
        "hgvsWellDefined": "ENSP00000399851.2:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "A",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*134A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*134A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "A",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr251Ser",
        "hgvsWellDefined": "NP_001119603.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081918464",
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr251Ser",
        "hgvsWellDefined": "NP_002684.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr251Ser",
        "hgvsWellDefined": "NP_001119603.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081918464",
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "A",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.751A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr251Ser",
        "hgvsWellDefined": "NP_002684.1:p.Thr251Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.751A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.751A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr251Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr251Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}