{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044183",
  "communityStandardTitle": [
    "NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362098[alleleid]",
        "alleleId": 362098,
        "preferredName": "NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375331",
        "RCV": [
          "RCV000416402",
          "RCV001310903"
        ],
        "variationId": 375331
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.227172593T>C?assembly=hg19",
        "id": "chr1:g.227172593T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.226984892T>C?assembly=hg38",
        "id": "chr1:g.226984892T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519343",
        "rs": 1057519343
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-226984892-T-C?dataset=gnomad_r3",
        "id": "1-226984892-T-C",
        "variant": "1:226984892 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-226984892-T-C?dataset=gnomad_r4",
        "id": "1-226984892-T-C",
        "variant": "1:226984892 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 226984892,
          "referenceAllele": "T",
          "start": 226984891
        }
      ],
      "hgvs": [
        "NC_000001.11:g.226984892T>C",
        "CM000663.2:g.226984892T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 227172593,
          "referenceAllele": "T",
          "start": 227172592
        }
      ],
      "hgvs": [
        "NC_000001.10:g.227172593T>C",
        "CM000663.1:g.227172593T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 225239216,
          "referenceAllele": "T",
          "start": 225239215
        }
      ],
      "hgvs": [
        "NC_000001.9:g.225239216T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49656,
          "referenceAllele": "T",
          "start": 49655
        }
      ],
      "hgvs": [
        "NG_012825.1:g.49656T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92357,
          "referenceAllele": "T",
          "start": 92356
        }
      ],
      "hgvs": [
        "NG_012825.2:g.92357T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616187"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.4:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Phe508Ser",
        "hgvsWellDefined": "ENSP00000355739.3:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1523T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1523T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Phe508Ser"
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Phe508Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8268,
          "referenceAllele": "T",
          "start": 8267
        }
      ],
      "hgvs": [
        "ENST00000366779.6:c.*6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.2:n.*6250T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "T",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Phe508Ser",
        "hgvsWellDefined": "ENSP00000355739.3:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "T",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366778.5:c.1367T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355740.1:p.Phe456Ser",
        "hgvsWellDefined": "ENSP00000355740.1:p.Phe456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4294,
          "referenceAllele": "T",
          "start": 4293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366779.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.1:p.Phe508Ser",
        "hgvsWellDefined": "ENSP00000355741.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2385,
          "referenceAllele": "T",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000478406.5:n.2385T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "T",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000479852.1:n.710T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000485462.5:n.913T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645496066",
      "coordinates": [
        {
          "allele": "C",
          "end": 1695,
          "referenceAllele": "T",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.4:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Phe508Ser",
        "hgvsWellDefined": "NP_064632.2:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_005273201.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273258.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_005273258.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544238.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542540.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542540.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1710,
          "referenceAllele": "T",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542541.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1729,
          "referenceAllele": "T",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544240.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542542.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542542.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1696,
          "referenceAllele": "T",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542543.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "referenceAllele": "T",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542541.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1566,
          "referenceAllele": "T",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_011542543.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1785,
          "referenceAllele": "T",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_017001852.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857341.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_016857341.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1737,
          "referenceAllele": "T",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448517.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304285.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_024304285.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1709,
          "referenceAllele": "T",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448518.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304286.1:p.Phe508Ser",
        "hgvsWellDefined": "XP_024304286.1:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645496066",
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Phe508Ser",
        "hgvsWellDefined": "NP_064632.2:p.Phe508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1523T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1523T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Phe508Ser"
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Phe508Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}