{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123142",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.752C>T (p.Thr251Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28542[alleleid]",
        "alleleId": 28542,
        "preferredName": "NM_002693.3(POLG):c.752C>T (p.Thr251Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13503",
        "RCV": [
          "RCV000014448",
          "RCV000014447",
          "RCV000020484",
          "RCV000184009",
          "RCV000188641",
          "RCV000194055",
          "RCV000262479",
          "RCV000415105",
          "RCV001004407",
          "RCV001642225",
          "RCV001678594",
          "RCV001813742",
          "RCV001813985",
          "RCV001847602",
          "RCV002272019",
          "RCV002287334",
          "RCV002313708",
          "RCV002319423",
          "RCV003458331"
        ],
        "variationId": 13503
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89873415-G-A",
        "id": "15-89873415-G-A",
        "variant": "15:89873415 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89873415G>A?assembly=hg19",
        "id": "chr15:g.89873415G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89330184G>A?assembly=hg38",
        "id": "chr15:g.89330184G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994094",
        "rs": 113994094
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89873415-G-A?dataset=gnomad_r2_1",
        "id": "15-89873415-G-A",
        "variant": "15:89873415 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89330184-G-A?dataset=gnomad_r3",
        "id": "15-89330184-G-A",
        "variant": "15:89330184 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89330184-G-A?dataset=gnomad_r4",
        "id": "15-89330184-G-A",
        "variant": "15:89330184 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89330184,
          "referenceAllele": "G",
          "start": 89330183
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89330184G>A",
        "CM000677.2:g.89330184G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89873415,
          "referenceAllele": "G",
          "start": 89873414
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89873415G>A",
        "CM000677.1:g.89873415G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87674419,
          "referenceAllele": "G",
          "start": 87674418
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87674419G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9612,
          "referenceAllele": "C",
          "start": 9611
        }
      ],
      "hgvs": [
        "NG_008218.1:g.9612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9612,
          "referenceAllele": "C",
          "start": 9611
        }
      ],
      "hgvs": [
        "NG_008218.2:g.9612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000516154.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000268124.5:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.752C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.752C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr251Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr251Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Thr118Ile",
        "hgvsWellDefined": "ENSP00000432885.2:p.Thr118Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000490653.2:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000489799.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.950C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000268124.5:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "C",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Thr251Ile",
        "hgvsWellDefined": "ENSP00000399851.2:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*135C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*135C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr251Ile",
        "hgvsWellDefined": "NP_001119603.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr251Ile",
        "hgvsWellDefined": "NP_002684.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Thr251Ile",
        "hgvsWellDefined": "NP_001119603.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.752C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Thr251Ile",
        "hgvsWellDefined": "NP_002684.1:p.Thr251Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.752C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.752C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Thr251Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Thr251Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}