{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602323",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3273+6T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341443[alleleid]",
        "alleleId": 341443,
        "preferredName": "NM_002693.3(POLG):c.3273+6T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/317324",
        "RCV": [
          "RCV000281171",
          "RCV000460872"
        ],
        "variationId": 317324
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89862156A>T?assembly=hg19",
        "id": "chr15:g.89862156A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89318925A>T?assembly=hg38",
        "id": "chr15:g.89318925A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886051522",
        "rs": 886051522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89862156-A-T?dataset=gnomad_r2_1",
        "id": "15-89862156-A-T",
        "variant": "15:89862156 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89318925-A-T?dataset=gnomad_r4",
        "id": "15-89318925-A-T",
        "variant": "15:89318925 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89318925,
          "referenceAllele": "A",
          "start": 89318924
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89318925A>T",
        "CM000677.2:g.89318925A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89862156,
          "referenceAllele": "A",
          "start": 89862155
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89862156A>T",
        "CM000677.1:g.89862156A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87663160,
          "referenceAllele": "A",
          "start": 87663159
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87663160A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20871,
          "referenceAllele": "T",
          "start": 20870
        }
      ],
      "hgvs": [
        "NG_008218.1:g.20871T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79963,
          "referenceAllele": "A",
          "start": 79962
        }
      ],
      "hgvs": [
        "NG_011736.1:g.79963A>T",
        "LRG_500:g.79963A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20871,
          "referenceAllele": "T",
          "start": 20870
        }
      ],
      "hgvs": [
        "NG_008218.2:g.20871T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4217,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 4217,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3584,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3584,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3273+6T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3273+6T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.3273+6T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.3273+6T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2874,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2874,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.2874+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:n.2874+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3529,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3529,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*343+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*343+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3600,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3600,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*1840+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*1840+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2082,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2082,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.2082+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.2082+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2345,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2345+6T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2850,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2850,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.2850+6T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3471,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3471,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.3471+6T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.450+6T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3273,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3273,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3273+6T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3607,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3609,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3609,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.357+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:n.357+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3775,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2697+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2697+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3543,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3543,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3555,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3555,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3572,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3572,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3584,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 3584,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3273+6T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:n.3273+6T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3273+6T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3273+6T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:n.3273+6T>A"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:n.3273+6T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}