{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3122276",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.63T>C (p.Ile21=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=292681[alleleid]",
        "alleleId": 292681,
        "preferredName": "NM_004453.4(ETFDH):c.63T>C (p.Ile21=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/347956",
        "RCV": [
          "RCV000341906"
        ],
        "variationId": 347956
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-159601647-T-C",
        "id": "4-159601647-T-C",
        "variant": "4:159601647 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159601647T>C?assembly=hg19",
        "id": "chr4:g.159601647T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158680495T>C?assembly=hg38",
        "id": "chr4:g.158680495T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/566605780",
        "rs": 566605780
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-159601647-T-C?dataset=gnomad_r2_1",
        "id": "4-159601647-T-C",
        "variant": "4:159601647 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158680495-T-C?dataset=gnomad_r3",
        "id": "4-158680495-T-C",
        "variant": "4:158680495 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158680495-T-C?dataset=gnomad_r4",
        "id": "4-158680495-T-C",
        "variant": "4:158680495 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 158680495,
          "referenceAllele": "T",
          "start": 158680494
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158680495T>C",
        "CM000666.2:g.158680495T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159601647,
          "referenceAllele": "T",
          "start": 159601646
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159601647T>C",
        "CM000666.1:g.159601647T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159821097,
          "referenceAllele": "T",
          "start": 159821096
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159821097T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13154,
          "referenceAllele": "T",
          "start": 13153
        }
      ],
      "hgvs": [
        "NG_007078.2:g.13154T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "T",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.3:n.314T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.6:n.179-4097T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "T",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.312T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "T",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.35-33T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.35-33T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682409.1:n.172T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.394T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682601.1:n.254T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-649-4097T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-649-4097T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "T",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.100T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682910.1:n.370T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 1075,
          "referenceAllele": "T",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.-52-1076T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:n.-52-1076T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.-90-4097T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.-90-4097T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 186,
          "referenceAllele": "T",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683750.1:n.186T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.-90-4097T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:n.-90-4097T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683799.1:n.372T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "T",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-694-4097T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-694-4097T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "referenceAllele": "T",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.303T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.204T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "referenceAllele": "T",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "T",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.63T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.63T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Ile21="
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Ile21="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 1699,
          "referenceAllele": "T",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.35-1700T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:n.35-1700T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.2:n.204T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 8005,
          "referenceAllele": "T",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 8004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.86+8005T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 4096,
          "referenceAllele": "T",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.-90-4097T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:n.-90-4097T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "T",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000512251.5:c.35-33T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425661.1:n.35-33T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 1699,
          "referenceAllele": "T",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.35-1700T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:n.35-1700T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829518974",
      "coordinates": [
        {
          "allele": "C",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "T",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829518974",
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.63T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Ile21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.63T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.63T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Ile21="
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Ile21="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 1699,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.35-1700T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:n.35-1700T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}