{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606974",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.501G>A (p.Pro167=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275227[alleleid]",
        "alleleId": 275227,
        "preferredName": "NM_002693.3(POLG):c.501G>A (p.Pro167=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290990",
        "RCV": [
          "RCV000362221",
          "RCV002061144"
        ],
        "variationId": 290990
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89876485C>T?assembly=hg19",
        "id": "chr15:g.89876485C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89333254C>T?assembly=hg38",
        "id": "chr15:g.89333254C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044612",
        "rs": 886044612
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89333254-C-T?dataset=gnomad_r4",
        "id": "15-89333254-C-T",
        "variant": "15:89333254 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89333254,
          "referenceAllele": "C",
          "start": 89333253
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89333254C>T",
        "CM000677.2:g.89333254C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89876485,
          "referenceAllele": "C",
          "start": 89876484
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89876485C>T",
        "CM000677.1:g.89876485C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 87677489,
          "referenceAllele": "C",
          "start": 87677488
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87677489C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6542,
          "referenceAllele": "G",
          "start": 6541
        }
      ],
      "hgvs": [
        "NG_008218.1:g.6542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6542,
          "referenceAllele": "G",
          "start": 6541
        }
      ],
      "hgvs": [
        "NG_008218.2:g.6542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056246",
      "geneNCBI_id": 125316803,
      "geneSymbol": "POLGARF",
      "hgvs": [
        "ENST00000706918.1:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516626.1:p.Gly186Ser",
        "hgvsWellDefined": "ENSP00000516626.1:p.Gly186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.501G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.501G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Pro167="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Pro167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "G",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.102G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Pro34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "G",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000650303.2:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497242.2:p.Gly186Ser",
        "hgvsWellDefined": "ENSP00000497242.2:p.Gly186Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.158G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "G",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620533",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829398530",
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620533",
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829398530",
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Pro167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.501G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.501G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Pro167="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Pro167="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}