{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1148440349",
  "communityStandardTitle": [
    "NM_020247.5(COQ8A):c.1136T= (p.Leu379=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747150601",
        "rs": 747150601
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 226983607,
          "referenceAllele": "T",
          "start": 226983606
        }
      ],
      "hgvs": [
        "NC_000001.11:g.226983607T=",
        "CM000663.2:g.226983607T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 227171308,
          "referenceAllele": "T",
          "start": 227171307
        }
      ],
      "hgvs": [
        "NC_000001.10:g.227171308T=",
        "CM000663.1:g.227171308T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 225237931,
          "referenceAllele": "T",
          "start": 225237930
        }
      ],
      "hgvs": [
        "NC_000001.9:g.225237931T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48371,
          "referenceAllele": "T",
          "start": 48370
        }
      ],
      "hgvs": [
        "NG_012825.1:g.48371T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91072,
          "referenceAllele": "T",
          "start": 91071
        }
      ],
      "hgvs": [
        "NG_012825.2:g.91072T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616187"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.4:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1136T="
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1136T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Leu379="
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Leu379="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7881,
          "referenceAllele": "T",
          "start": 7880
        }
      ],
      "hgvs": [
        "ENST00000366779.6:c.*5863T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.2:n.*5863T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8003,
          "referenceAllele": "T",
          "start": 8002
        }
      ],
      "hgvs": [
        "ENST00000676884.1:c.*5985T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503200.1:n.*5985T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.3:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366778.5:c.980T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355740.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "referenceAllele": "T",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366779.5:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1632,
          "referenceAllele": "T",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000478406.5:n.1632T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "T",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000479852.1:n.84T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000485462.5:n.526T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064236570",
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.4:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "T",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_005273201.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273258.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544238.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542540.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "T",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544240.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542542.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.2:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "T",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.2:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "T",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_017001852.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857341.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448517.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304285.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448518.1:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304286.1:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064236570",
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "T",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.5:c.1136T="
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Leu379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1136T="
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1136T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Leu379="
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Leu379="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}