{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2201081",
  "communityStandardTitle": [
    "NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=884341[alleleid]",
        "alleleId": 884341,
        "preferredName": "NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897655",
        "RCV": [
          "RCV001141071",
          "RCV001141072",
          "RCV002285448",
          "RCV003928737"
        ],
        "variationId": 897655
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-240960720-G-A",
        "id": "2-240960720-G-A",
        "variant": "2:240960720 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240960720G>A?assembly=hg19",
        "id": "chr2:g.240960720G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240021303G>A?assembly=hg38",
        "id": "chr2:g.240021303G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118106981",
        "rs": 118106981
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240960720-G-A?dataset=gnomad_r2_1",
        "id": "2-240960720-G-A",
        "variant": "2:240960720 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240021303-G-A?dataset=gnomad_r3",
        "id": "2-240021303-G-A",
        "variant": "2:240021303 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240021303-G-A?dataset=gnomad_r4",
        "id": "2-240021303-G-A",
        "variant": "2:240021303 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240021303,
          "referenceAllele": "G",
          "start": 240021302
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240021303G>A",
        "CM000664.2:g.240021303G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240960720,
          "referenceAllele": "G",
          "start": 240960719
        }
      ],
      "hgvs": [
        "NC_000002.11:g.240960720G>A",
        "CM000664.1:g.240960720G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240609393,
          "referenceAllele": "G",
          "start": 240609392
        }
      ],
      "hgvs": [
        "NC_000002.10:g.240609393G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9100,
          "referenceAllele": "C",
          "start": 9099
        }
      ],
      "hgvs": [
        "NG_031855.1:g.9100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9100,
          "referenceAllele": "C",
          "start": 9099
        }
      ],
      "hgvs": [
        "NG_031855.2:g.9100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616326"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000252711.7:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252711.2:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252711.7:c.354C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004544.4:c.354C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252711.2:p.Tyr118="
          },
          "RefSeq": {
            "hgvs": "NP_004535.1:p.Tyr118="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000414580.2:c.164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388413.2:p.Thr55Met",
        "hgvsWellDefined": "ENSP00000388413.2:p.Thr55Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000444548.6:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403080.2:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000448880.6:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408224.2:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000476216.6:n.451C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000620965.5:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480897.2:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000676491.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504528.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000676782.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504717.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000676784.1:n.442C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000676929.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503956.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677057.1:n.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677114.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504818.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677155.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502921.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677263.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503790.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677294.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503461.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677368.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502983.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677395.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502890.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677407.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503141.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677490.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503255.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677567.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503217.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677692.1:n.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677764.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504547.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000677979.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503341.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678158.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504765.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678188.1:n.442C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678289.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504063.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678455.1:c.351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504395.1:p.Tyr117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678468.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503925.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678562.1:c.*147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502954.1:n.*147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678737.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503770.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678832.1:c.185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502992.1:p.Thr62Met",
        "hgvsWellDefined": "ENSP00000502992.1:p.Thr62Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678898.1:n.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000678914.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504515.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000679158.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503837.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000679183.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503016.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000679308.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503148.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000679332.1:n.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000252711.6:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252711.2:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000307300.8:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302321.4:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000404554.5:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385697.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000407129.3:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383975.3:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000414580.1:c.185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388413.1:p.Thr62Met",
        "hgvsWellDefined": "ENSP00000388413.1:p.Thr62Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000443626.5:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411527.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000485344.6:n.376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000497536.1:n.377C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "ENST00000620965.4:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480897.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829545586",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_004544.3:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004535.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "XM_006712543.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712606.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "XM_011511228.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509530.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "XM_011511229.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509531.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827139580",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_001322019.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308948.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827139689",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_001322020.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308949.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136155.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136156.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136157.1:n.286C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136158.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "XM_011511228.3:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509530.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "XR_001738750.2:n.396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829545586",
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_004544.4:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004535.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252711.7:c.354C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004544.4:c.354C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252711.2:p.Tyr118="
          },
          "RefSeq": {
            "hgvs": "NP_004535.1:p.Tyr118="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827139689",
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_001322020.2:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308949.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136155.2:n.395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136156.2:n.395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136157.2:n.226C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NR_136158.2:n.395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827139580",
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007684",
      "geneNCBI_id": 4705,
      "geneSymbol": "NDUFA10",
      "hgvs": [
        "NM_001322019.2:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308948.1:p.Tyr118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718054"
    }
  ],
  "type": "nucleotide"
}