{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044191",
  "communityStandardTitle": [
    "NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362108[alleleid]",
        "alleleId": 362108,
        "preferredName": "NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375344",
        "RCV": [
          "RCV000416396"
        ],
        "variationId": 375344
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74428570G>A?assembly=hg19",
        "id": "chr14:g.74428570G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73961867G>A?assembly=hg38",
        "id": "chr14:g.73961867G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519351",
        "rs": 1057519351
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73961867,
          "referenceAllele": "G",
          "start": 73961866
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73961867G>A",
        "CM000676.2:g.73961867G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74428570,
          "referenceAllele": "G",
          "start": 74428569
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74428570G>A",
        "CM000676.1:g.74428570G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73498323,
          "referenceAllele": "G",
          "start": 73498322
        }
      ],
      "hgvs": [
        "NC_000014.7:g.73498323G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16934,
          "referenceAllele": "G",
          "start": 16933
        }
      ],
      "hgvs": [
        "NG_032805.1:g.16934G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005227"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000334571.7:c.1341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333946.2:p.Trp447Ter",
        "hgvsWellDefined": "ENSP00000333946.2:p.Trp447_Lys468delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334571.7:c.1341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182476.3:c.1341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333946.2:p.Trp447Ter"
          },
          "RefSeq": {
            "hgvs": "NP_872282.1:p.Trp447Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "G",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000238709.8:c.1338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238709.5:p.Trp446Ter",
        "hgvsWellDefined": "ENSP00000238709.5:p.Trp446_Lys467delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000334571.6:c.1341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333946.2:p.Trp447Ter",
        "hgvsWellDefined": "ENSP00000333946.2:p.Trp447_Lys468delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000394026.8:c.1266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377594.4:p.Trp422Ter",
        "hgvsWellDefined": "ENSP00000377594.4:p.Trp422_Lys443delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554341.6:c.*946G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450736.2:n.*946G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 1102,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554920.5:c.482-1103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451562.1:n.482-1103G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "C",
          "start": 224,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "ENST00000555829.5:c.225-317C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000556299.1:n.552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2941,
          "referenceAllele": "G",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000556588.5:n.2941G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1552,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "ENST00000557325.5:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451810.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000557780.5:n.343+297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000629426.2:c.1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486650.1:p.Trp372Ter",
        "hgvsWellDefined": "ENSP00000486650.1:p.Trp372_Lys393delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447652",
      "coordinates": [
        {
          "allele": "A",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182476.2:c.1341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872282.1:p.Trp447Ter",
        "hgvsWellDefined": "NP_872282.1:p.Trp447_Lys468delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830407992",
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182480.2:c.1266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872286.2:p.Trp422Ter",
        "hgvsWellDefined": "NP_872286.2:p.Trp422_Lys443delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_005267716.1:c.1176G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267773.1:p.Trp392Ter",
        "hgvsWellDefined": "XP_005267773.1:p.Trp392_Lys413delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_006720156.1:c.1014G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720219.1:p.Trp338Ter",
        "hgvsWellDefined": "XP_006720219.1:p.Trp338_Lys359delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1514,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "XM_006720325.2:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720388.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536807.1:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535109.1:p.Trp411Ter",
        "hgvsWellDefined": "XP_011535109.1:p.Trp411_Lys432delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536808.1:c.1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535110.1:p.Trp372Ter",
        "hgvsWellDefined": "XP_011535110.1:p.Trp372_Lys393delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536809.1:c.1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535111.1:p.Trp372Ter",
        "hgvsWellDefined": "XP_011535111.1:p.Trp372_Lys393delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 1102,
          "referenceAllele": "G",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536810.1:c.892-1103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535112.1:n.892-1103G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536811.1:c.801G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535113.1:p.Trp267Ter",
        "hgvsWellDefined": "XP_011535113.1:p.Trp267_Lys288delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "C",
          "start": 1638,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001321984.1:c.1201-317C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308913.1:n.1201-317C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1647,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001330189.1:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317118.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1514,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "XM_006720325.3:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720388.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536807.2:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535109.1:p.Trp411Ter",
        "hgvsWellDefined": "XP_011535109.1:p.Trp411_Lys432delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536808.2:c.1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535110.1:p.Trp372Ter",
        "hgvsWellDefined": "XP_011535110.1:p.Trp372_Lys393delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536809.3:c.1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535111.1:p.Trp372Ter",
        "hgvsWellDefined": "XP_011535111.1:p.Trp372_Lys393delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1102,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536810.3:c.892-1103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535112.1:n.892-1103G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_017021351.2:c.801G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876840.1:p.Trp267Ter",
        "hgvsWellDefined": "XP_016876840.1:p.Trp267_Lys288delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_017021352.2:c.735G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876841.1:p.Trp245Ter",
        "hgvsWellDefined": "XP_016876841.1:p.Trp245_Lys266delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1388,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "XM_017021814.1:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877303.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1373,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "XM_017021817.1:c.1060-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877306.1:n.1060-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_024449619.1:c.735G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305387.1:p.Trp245Ter",
        "hgvsWellDefined": "XP_024305387.1:p.Trp245_Lys266delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_001750342.1:n.1495G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "endIntronDirection": "-",
          "endIntronOffset": 316,
          "referenceAllele": "C",
          "start": 1603,
          "startIntronDirection": "-",
          "startIntronOffset": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001321984.2:c.1201-317C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308913.1:n.1201-317C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1603,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001330189.2:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317118.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447652",
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182476.3:c.1341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872282.1:p.Trp447Ter",
        "hgvsWellDefined": "NP_872282.1:p.Trp447_Lys468delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334571.7:c.1341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182476.3:c.1341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333946.2:p.Trp447Ter"
          },
          "RefSeq": {
            "hgvs": "NP_872282.1:p.Trp447Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 6279,
          "referenceAllele": "C",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 6280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382258.1:c.1201-6280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369187.1:n.1201-6280C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382259.1:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369188.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "endIntronDirection": "-",
          "endIntronOffset": 2313,
          "referenceAllele": "C",
          "start": 1369,
          "startIntronDirection": "-",
          "startIntronOffset": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382260.1:c.1201-2314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369189.1:n.1201-2314C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 6038,
          "referenceAllele": "C",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 6039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382262.1:c.1201-6039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369191.1:n.1201-6039C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830407992",
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182480.3:c.1266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872286.2:p.Trp422Ter",
        "hgvsWellDefined": "NP_872286.2:p.Trp422_Lys443delinsGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729759"
    }
  ],
  "type": "nucleotide"
}