{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA308801",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198556[alleleid]",
        "alleleId": 198556,
        "preferredName": "NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/202093",
        "RCV": [
          "RCV000183908",
          "RCV003512022"
        ],
        "variationId": 202093
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153648084G>A?assembly=hg19",
        "id": "chrX:g.153648084G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154419745G>A?assembly=hg38",
        "id": "chrX:g.154419745G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729167",
        "rs": 794729167
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154419745,
          "referenceAllele": "G",
          "start": 154419744
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154419745G>A",
        "CM000685.2:g.154419745G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153648084,
          "referenceAllele": "G",
          "start": 153648083
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153648084G>A",
        "CM000685.1:g.153648084G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153301278,
          "referenceAllele": "G",
          "start": 153301277
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153301278G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13208,
          "referenceAllele": "G",
          "start": 13207
        }
      ],
      "hgvs": [
        "NG_009634.1:g.13208G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13211,
          "referenceAllele": "G",
          "start": 13210
        }
      ],
      "hgvs": [
        "NG_009634.2:g.13211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.1107G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.1723G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698318.1:n.1506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698319.1:n.869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698320.1:n.757G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.2:n.770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.546G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Trp182Ter",
        "hgvsWellDefined": "ENSP00000419854.3:p.Trp182_Arg280delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.464G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.582G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Trp194Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Trp194_Arg292delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.582G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.582G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Trp194Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Trp194Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 735,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.541+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:n.541+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.492G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Trp164Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Trp164_Arg262delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.1929G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.886G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 595,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.595+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:n.595+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.*310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:n.*310G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652354.1:c.265+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498734.1:n.265+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.375G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:p.Trp125Ter",
        "hgvsWellDefined": "ENSP00000498464.1:p.Trp125_Arg223delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Trp167Ter",
        "hgvsWellDefined": "ENSP00000498858.1:p.Trp167_Arg265delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.963G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 195,
          "referenceAllele": "G",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652644.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498496.1:p.Trp65Ter",
        "hgvsWellDefined": "ENSP00000498496.1:p.Trp65_Arg163delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000498288.1:p.Trp213_Arg311delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.650G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.376+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:n.376+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000426231.5:c.579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:p.Trp163Ter",
        "hgvsWellDefined": "ENSP00000398193.1:p.Trp163Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "referenceAllele": "G",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.1:n.161G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.541+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:n.541+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476679.5:n.576G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483780.5:n.347G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000494912.5:n.1271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.582G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Trp194Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Trp194_Arg292delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.546G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:p.Trp182Ter",
        "hgvsWellDefined": "ENSP00000482070.1:p.Trp182Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.492G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Trp164Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Trp164_Arg262delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.451+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:n.451+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.812G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.986G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.*310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:n.*310G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 286,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.*170-287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:n.*170-287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA308802",
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.582G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Trp194Ter",
        "hgvsWellDefined": "NP_000107.1:p.Trp194_Arg292delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.595+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.595+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387387",
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "G",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Trp164Ter",
        "hgvsWellDefined": "NP_851828.1:p.Trp164_Arg262delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 867,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.541+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.541+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 777,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.451+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.451+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.924G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Trp212Ter",
        "hgvsWellDefined": "XP_006724899.1:p.Trp212_Arg310delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.505+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:n.505+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.505+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:n.505+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.375G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Trp125Ter",
        "hgvsWellDefined": "XP_006724904.1:p.Trp125_Arg223delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Trp95Ter",
        "hgvsWellDefined": "XP_006724905.1:p.Trp95_Arg193delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 286,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.425-287G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:n.425-287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531190.1:c.375G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529492.1:p.Trp125Ter",
        "hgvsWellDefined": "XP_011529492.1:p.Trp125_Arg223delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.1:c.306G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Trp102Ter",
        "hgvsWellDefined": "XP_011529493.1:p.Trp102_Arg200delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531192.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529494.1:p.Trp101Ter",
        "hgvsWellDefined": "XP_011529494.1:p.Trp101_Arg199delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.930G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.375G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Trp125Ter",
        "hgvsWellDefined": "XP_006724904.1:p.Trp125_Arg223delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Trp95Ter",
        "hgvsWellDefined": "XP_006724905.1:p.Trp95_Arg193delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.2:c.306G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Trp102Ter",
        "hgvsWellDefined": "XP_011529493.1:p.Trp102_Arg200delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.451+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:n.451+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.546G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Trp182Ter",
        "hgvsWellDefined": "XP_016885251.1:p.Trp182_Arg280delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 286,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.371-287G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:n.371-287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029764.1:c.303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885253.1:p.Trp101Ter",
        "hgvsWellDefined": "XP_016885253.1:p.Trp101_Arg199delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 732,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.244+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:n.244+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 286,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.425-287G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:n.425-287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA308802",
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.582G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Trp194Ter",
        "hgvsWellDefined": "NP_000107.1:p.Trp194_Arg292delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.582G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.582G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Trp194Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Trp194Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.595+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.595+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387387",
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Trp164Ter",
        "hgvsWellDefined": "NP_851828.1:p.Trp164_Arg262delinsGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 846,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.541+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.541+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.451+122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.451+122G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "G",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.903G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}