{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261289",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51436[alleleid]",
        "alleleId": 51436,
        "preferredName": "NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42266",
        "RCV": [
          "RCV000035099"
        ],
        "variationId": 42266
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153649015G>C?assembly=hg19",
        "id": "chrX:g.153649015G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154420676G>C?assembly=hg38",
        "id": "chrX:g.154420676G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907218",
        "rs": 387907218
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154420676,
          "referenceAllele": "G",
          "start": 154420675
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154420676G>C",
        "CM000685.2:g.154420676G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153649015,
          "referenceAllele": "G",
          "start": 153649014
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153649015G>C",
        "CM000685.1:g.153649015G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153302209,
          "referenceAllele": "G",
          "start": 153302208
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153302209G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14139,
          "referenceAllele": "G",
          "start": 14138
        }
      ],
      "hgvs": [
        "NG_009634.1:g.14139G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14142,
          "referenceAllele": "G",
          "start": 14141
        }
      ],
      "hgvs": [
        "NG_009634.2:g.14142G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.1528G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.2144G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698318.1:n.1927G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698319.1:n.1290G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698320.1:n.1178G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.2:n.1191G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.682G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Gly228Arg",
        "hgvsWellDefined": "ENSP00000419854.3:p.Gly228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.600G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly240Arg",
        "hgvsWellDefined": "ENSP00000469981.1:p.Gly240Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.718G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.718G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly240Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly240Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.676G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:p.Gly226Arg",
        "hgvsWellDefined": "ENSP00000482070.2:p.Gly226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.628G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly210Arg",
        "hgvsWellDefined": "ENSP00000481037.1:p.Gly210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "G",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.2065G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "G",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.1307G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.730G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:p.Gly244Arg",
        "hgvsWellDefined": "ENSP00000483636.2:p.Gly244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.*731G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:n.*731G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000651139.1:c.-66G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498957.1:n.-66G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "G",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652354.1:c.400G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498734.1:p.Gly134Arg",
        "hgvsWellDefined": "ENSP00000498734.1:p.Gly134Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.511G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:p.Gly171Arg",
        "hgvsWellDefined": "ENSP00000498464.1:p.Gly171Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.637G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Gly213Arg",
        "hgvsWellDefined": "ENSP00000498858.1:p.Gly213Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1384,
          "referenceAllele": "G",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.1384G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652644.1:c.331G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498496.1:p.Gly111Arg",
        "hgvsWellDefined": "ENSP00000498496.1:p.Gly111Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.775G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Gly259Arg",
        "hgvsWellDefined": "ENSP00000498288.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.1071G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.628G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:p.Gly210Arg",
        "hgvsWellDefined": "ENSP00000358791.4:p.Gly210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000426231.5:c.715G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.676G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:p.Gly226Arg",
        "hgvsWellDefined": "ENSP00000419854.2:p.Gly226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000494912.5:n.1407G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176,
          "referenceAllele": "G",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000498029.1:n.176G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly240Arg",
        "hgvsWellDefined": "ENSP00000469981.1:p.Gly240Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.628G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly210Arg",
        "hgvsWellDefined": "ENSP00000481037.1:p.Gly210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.586G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:p.Gly196Arg",
        "hgvsWellDefined": "ENSP00000478154.1:p.Gly196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.*446G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:n.*446G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102470",
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly240Arg",
        "hgvsWellDefined": "NP_000107.1:p.Gly240Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019594",
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.730G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Gly244Arg",
        "hgvsWellDefined": "NP_001290394.1:p.Gly244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387436",
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "G",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.628G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly210Arg",
        "hgvsWellDefined": "NP_851828.1:p.Gly210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387688",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.676G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Gly226Arg",
        "hgvsWellDefined": "NP_851829.1:p.Gly226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387892",
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.586G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Gly196Arg",
        "hgvsWellDefined": "NP_851830.1:p.Gly196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.1060G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Gly258Arg",
        "hgvsWellDefined": "XP_006724899.1:p.Gly258Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.757G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:p.Gly253Arg",
        "hgvsWellDefined": "XP_006724900.1:p.Gly253Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.640G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:p.Gly214Arg",
        "hgvsWellDefined": "XP_006724902.1:p.Gly214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.511G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly171Arg",
        "hgvsWellDefined": "XP_006724904.1:p.Gly171Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "referenceAllele": "G",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.421G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly141Arg",
        "hgvsWellDefined": "XP_006724905.1:p.Gly141Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.559G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:p.Gly187Arg",
        "hgvsWellDefined": "XP_011529491.1:p.Gly187Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531190.1:c.511G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529492.1:p.Gly171Arg",
        "hgvsWellDefined": "XP_011529492.1:p.Gly171Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.1:c.442G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly148Arg",
        "hgvsWellDefined": "XP_011529493.1:p.Gly148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531192.1:c.439G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529494.1:p.Gly147Arg",
        "hgvsWellDefined": "XP_011529494.1:p.Gly147Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.1066G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.511G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly171Arg",
        "hgvsWellDefined": "XP_006724904.1:p.Gly171Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.421G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly141Arg",
        "hgvsWellDefined": "XP_006724905.1:p.Gly141Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.2:c.442G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly148Arg",
        "hgvsWellDefined": "XP_011529493.1:p.Gly148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.703G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:p.Gly235Arg",
        "hgvsWellDefined": "XP_016885250.1:p.Gly235Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.682G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Gly228Arg",
        "hgvsWellDefined": "XP_016885251.1:p.Gly228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.505G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:p.Gly169Arg",
        "hgvsWellDefined": "XP_016885252.1:p.Gly169Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029764.1:c.439G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885253.1:p.Gly147Arg",
        "hgvsWellDefined": "XP_016885253.1:p.Gly147Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.379G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:p.Gly127Arg",
        "hgvsWellDefined": "XP_016885254.1:p.Gly127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.676G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:p.Gly226Arg",
        "hgvsWellDefined": "XP_024308199.1:p.Gly226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102470",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.718G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly240Arg",
        "hgvsWellDefined": "NP_000107.1:p.Gly240Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.718G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.718G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly240Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly240Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019594",
      "coordinates": [
        {
          "allele": "C",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.730G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Gly244Arg",
        "hgvsWellDefined": "NP_001290394.1:p.Gly244Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387436",
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.628G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly210Arg",
        "hgvsWellDefined": "NP_851828.1:p.Gly210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387688",
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.676G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Gly226Arg",
        "hgvsWellDefined": "NP_851829.1:p.Gly226Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387892",
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.586G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Gly196Arg",
        "hgvsWellDefined": "NP_851830.1:p.Gly196Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.1039G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}