{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA292854",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.3564C>T (p.Cys1188=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142468[alleleid]",
        "alleleId": 142468,
        "preferredName": "NM_002693.3(POLG):c.3564C>T (p.Cys1188=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138765",
        "RCV": [
          "RCV000127546",
          "RCV000547592",
          "RCV001847755",
          "RCV003311689"
        ],
        "variationId": 138765
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-89860686-G-A",
        "id": "15-89860686-G-A",
        "variant": "15:89860686 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89860686G>A?assembly=hg19",
        "id": "chr15:g.89860686G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89317455G>A?assembly=hg38",
        "id": "chr15:g.89317455G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146584956",
        "rs": 146584956
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89860686-G-A?dataset=gnomad_r2_1",
        "id": "15-89860686-G-A",
        "variant": "15:89860686 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89317455-G-A?dataset=gnomad_r3",
        "id": "15-89317455-G-A",
        "variant": "15:89317455 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89317455-G-A?dataset=gnomad_r4",
        "id": "15-89317455-G-A",
        "variant": "15:89317455 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89317455,
          "referenceAllele": "G",
          "start": 89317454
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89317455G>A",
        "CM000677.2:g.89317455G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89860686,
          "referenceAllele": "G",
          "start": 89860685
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89860686G>A",
        "CM000677.1:g.89860686G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87661690,
          "referenceAllele": "G",
          "start": 87661689
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87661690G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22341,
          "referenceAllele": "C",
          "start": 22340
        }
      ],
      "hgvs": [
        "NG_008218.1:g.22341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78493,
          "referenceAllele": "G",
          "start": 78492
        }
      ],
      "hgvs": [
        "NG_011736.1:g.78493G>A",
        "LRG_500:g.78493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22341,
          "referenceAllele": "C",
          "start": 22340
        }
      ],
      "hgvs": [
        "NG_008218.2:g.22341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4508,
          "referenceAllele": "C",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3875,
          "referenceAllele": "C",
          "start": 3874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3564C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3564C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Cys1188="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Cys1188="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.3264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:n.3264C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3820,
          "referenceAllele": "C",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.*634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:n.*634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.*2168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:n.*2168C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637042.1:n.88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637238.1:c.2472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490756.1:n.2472C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2576,
          "referenceAllele": "C",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000637264.1:c.2576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3141,
          "referenceAllele": "C",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.3141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4766,
          "referenceAllele": "C",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.4766C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672695.1:n.1343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3564,
          "referenceAllele": "C",
          "start": 3563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672923.2:n.3564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3898,
          "referenceAllele": "C",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3900,
          "referenceAllele": "C",
          "start": 3899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000526671.1:n.374C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.2:c.747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.1:n.747C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4066,
          "referenceAllele": "C",
          "start": 4065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*2988C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*2988C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3834,
          "referenceAllele": "C",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829400423",
      "coordinates": [
        {
          "allele": "T",
          "end": 3846,
          "referenceAllele": "C",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825622666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3863,
          "referenceAllele": "C",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829400423",
      "coordinates": [
        {
          "allele": "T",
          "end": 3875,
          "referenceAllele": "C",
          "start": 3874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.3564C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Cys1188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.3564C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.3564C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Cys1188="
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Cys1188="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}