{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA231404",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135440[alleleid]",
        "alleleId": 135440,
        "preferredName": "NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129994",
        "RCV": [
          "RCV000118016",
          "RCV000234341",
          "RCV000778452",
          "RCV002243762",
          "RCV001847713",
          "RCV002272131",
          "RCV000515366",
          "RCV003330442",
          "RCV002316314",
          "RCV000678829"
        ],
        "variationId": 129994
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89862304-A-G",
        "id": "15-89862304-A-G",
        "variant": "15:89862304 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89862304A>G?assembly=hg19",
        "id": "chr15:g.89862304A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89319073A>G?assembly=hg38",
        "id": "chr15:g.89319073A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150233690",
        "rs": 150233690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89862304-A-G?dataset=gnomad_r2_1",
        "id": "15-89862304-A-G",
        "variant": "15:89862304 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89319073-A-G?dataset=gnomad_r3",
        "id": "15-89319073-A-G",
        "variant": "15:89319073 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89319073-A-G?dataset=gnomad_r4",
        "id": "15-89319073-A-G",
        "variant": "15:89319073 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89319073,
          "referenceAllele": "A",
          "start": 89319072
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89319073A>G",
        "CM000677.2:g.89319073A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89862304,
          "referenceAllele": "A",
          "start": 89862303
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89862304A>G",
        "CM000677.1:g.89862304A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 87663308,
          "referenceAllele": "A",
          "start": 87663307
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87663308A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20723,
          "referenceAllele": "T",
          "start": 20722
        }
      ],
      "hgvs": [
        "NG_008218.1:g.20723T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80111,
          "referenceAllele": "A",
          "start": 80110
        }
      ],
      "hgvs": [
        "NG_011736.1:g.80111A>G",
        "LRG_500:g.80111A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20723,
          "referenceAllele": "T",
          "start": 20722
        }
      ],
      "hgvs": [
        "NG_008218.2:g.20723T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4075,
          "referenceAllele": "T",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Val1044Ala",
        "hgvsWellDefined": "ENSP00000516154.1:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3442,
          "referenceAllele": "T",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Val1044Ala",
        "hgvsWellDefined": "ENSP00000268124.5:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3131T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3131T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Val1044Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Val1044Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2732,
          "referenceAllele": "T",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2732T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Val911Ala",
        "hgvsWellDefined": "ENSP00000432885.2:p.Val911Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3387,
          "referenceAllele": "T",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*201T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*201T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "T",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636530.1:n.91T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3458,
          "referenceAllele": "T",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1698T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1698T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "T",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.1940T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.1940T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2203,
          "referenceAllele": "T",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2203T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2708,
          "referenceAllele": "T",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2708T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3329,
          "referenceAllele": "T",
          "start": 3328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.308T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3131,
          "referenceAllele": "T",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3131T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3465,
          "referenceAllele": "T",
          "start": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Val1044Ala",
        "hgvsWellDefined": "ENSP00000268124.5:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3467,
          "referenceAllele": "T",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Val1044Ala",
        "hgvsWellDefined": "ENSP00000399851.2:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "T",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.215T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:p.Val72Ala",
        "hgvsWellDefined": "ENSP00000432885.1:p.Val72Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3633,
          "referenceAllele": "T",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2555T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2555T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622270",
      "coordinates": [
        {
          "allele": "C",
          "end": 3401,
          "referenceAllele": "T",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Val1044Ala",
        "hgvsWellDefined": "NP_001119603.1:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA231405",
      "coordinates": [
        {
          "allele": "C",
          "end": 3413,
          "referenceAllele": "T",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Val1044Ala",
        "hgvsWellDefined": "NP_002684.1:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622270",
      "coordinates": [
        {
          "allele": "C",
          "end": 3430,
          "referenceAllele": "T",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Val1044Ala",
        "hgvsWellDefined": "NP_001119603.1:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA231405",
      "coordinates": [
        {
          "allele": "C",
          "end": 3442,
          "referenceAllele": "T",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3131T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Val1044Ala",
        "hgvsWellDefined": "NP_002684.1:p.Val1044Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3131T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3131T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Val1044Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Val1044Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}