{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA337287770",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1108193[alleleid]",
        "alleleId": 1108193,
        "preferredName": "NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1104229",
        "RCV": [
          "RCV001428179",
          "RCV001673059",
          "RCV003160717"
        ],
        "variationId": 1104229
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153647889C>T?assembly=hg19",
        "id": "chrX:g.153647889C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154419550C>T?assembly=hg38",
        "id": "chrX:g.154419550C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/990648341",
        "rs": 990648341
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153647889-C-T?dataset=gnomad_r2_1",
        "id": "X-153647889-C-T",
        "variant": "X:153647889 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154419550-C-T?dataset=gnomad_r3",
        "id": "X-154419550-C-T",
        "variant": "X:154419550 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154419550-C-T?dataset=gnomad_r4",
        "id": "X-154419550-C-T",
        "variant": "X:154419550 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154419550,
          "referenceAllele": "C",
          "start": 154419549
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154419550C>T",
        "CM000685.2:g.154419550C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153647889,
          "referenceAllele": "C",
          "start": 153647888
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153647889C>T",
        "CM000685.1:g.153647889C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153301083,
          "referenceAllele": "C",
          "start": 153301082
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153301083C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13013,
          "referenceAllele": "C",
          "start": 13012
        }
      ],
      "hgvs": [
        "NG_009634.1:g.13013C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13016,
          "referenceAllele": "C",
          "start": 13015
        }
      ],
      "hgvs": [
        "NG_009634.2:g.13016C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.912C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.1528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698318.1:n.1311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698319.1:n.674C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698320.1:n.562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.2:n.656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Gly144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.269C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.468C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.468C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly156="
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly156="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.1815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.522C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:p.Gly174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.*196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:n.*196C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652354.1:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498734.1:p.Gly64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:p.Gly87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Gly129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652644.1:c.81C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498496.1:p.Gly27="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Gly175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000426231.5:c.384C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:p.Gly125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "referenceAllele": "C",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.1:n.47C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476679.5:n.381C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.2:n.87C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483780.5:n.152C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000494912.5:n.1076C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:p.Gly144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.791C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.*196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:n.*196C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 481,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.*170-482C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:n.*170-482C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042991",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826883942",
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.522C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Gly174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387355",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387625",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387829",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.522C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Gly174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:p.Gly144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:p.Gly144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 481,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.425-482C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:n.425-482C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531190.1:c.261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529492.1:p.Gly87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.1:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531192.1:c.189C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529494.1:p.Gly63="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.735C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "C",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.2:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Gly144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 481,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.371-482C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:n.371-482C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029764.1:c.189C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885253.1:p.Gly63="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.171C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:p.Gly57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 481,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.425-482C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:n.425-482C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042991",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.468C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.468C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly156="
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly156="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826883942",
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.522C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Gly174="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387355",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387625",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.468C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Gly156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387829",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Gly126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.789C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}