{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413537444",
  "communityStandardTitle": [
    "NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336499[alleleid]",
        "alleleId": 1336499,
        "preferredName": "NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344726",
        "RCV": [
          "RCV001849727",
          "RCV002274227",
          "RCV002543434"
        ],
        "variationId": 1344726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70627912G>A?assembly=hg19",
        "id": "chrX:g.70627912G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71408062G>A?assembly=hg38",
        "id": "chrX:g.71408062G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148488251",
        "rs": 2148488251
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 71408062,
          "referenceAllele": "G",
          "start": 71408061
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71408062G>A",
        "CM000685.2:g.71408062G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70627912,
          "referenceAllele": "G",
          "start": 70627911
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70627912G>A",
        "CM000685.1:g.70627912G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70544637,
          "referenceAllele": "G",
          "start": 70544636
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70544637G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46799,
          "referenceAllele": "G",
          "start": 46798
        }
      ],
      "hgvs": [
        "NG_012771.2:g.46799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3581,
          "referenceAllele": "G",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000276072.9:c.3581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276072.5:p.Arg1194His",
        "hgvsWellDefined": "ENSP00000276072.5:p.Arg1194His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000437147.8:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000461764.6:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000485087.6:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000682124.1:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4448,
          "referenceAllele": "G",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000683202.1:c.4295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507781.1:p.Arg1432His",
        "hgvsWellDefined": "ENSP00000507781.1:p.Arg1432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000683358.1:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3581,
          "referenceAllele": "G",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000683668.1:c.3581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507280.1:p.Arg1194His",
        "hgvsWellDefined": "ENSP00000507280.1:p.Arg1194His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000683782.1:c.4295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506996.1:p.Arg1432His",
        "hgvsWellDefined": "ENSP00000506996.1:p.Arg1432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000276072.8:c.889G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS743408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4343,
          "referenceAllele": "G",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000373790.9:c.4232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362895.5:p.Arg1411His",
        "hgvsWellDefined": "ENSP00000362895.5:p.Arg1411His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000423759.6:c.4295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406549.2:p.Arg1432His",
        "hgvsWellDefined": "ENSP00000406549.2:p.Arg1432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423759.6:c.4295G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004606.5:c.4295G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406549.2:p.Arg1432His"
          },
          "RefSeq": {
            "hgvs": "NP_004597.3:p.Arg1432His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000276072.7:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276072.3:p.Arg1452His",
        "hgvsWellDefined": "ENSP00000276072.3:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000373775.8:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4343,
          "referenceAllele": "G",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000373790.8:c.4292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362895.4:p.Arg1431His",
        "hgvsWellDefined": "ENSP00000362895.4:p.Arg1431His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000423759.5:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406549.1:p.Arg1452His",
        "hgvsWellDefined": "ENSP00000406549.1:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000437147.7:c.256G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "ENST00000463163.5:c.289G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_001286074.1:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273003.1:p.Arg1452His",
        "hgvsWellDefined": "NP_001273003.1:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_004606.4:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004597.2:p.Arg1452His",
        "hgvsWellDefined": "NP_004597.2:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4368,
          "referenceAllele": "G",
          "start": 4367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_138923.3:c.4292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620278.1:p.Arg1431His",
        "hgvsWellDefined": "NP_620278.1:p.Arg1431His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104387.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104388.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104389.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104390.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104391.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104392.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104393.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104394.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104395.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_005262295.1:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262352.1:p.Arg1452His",
        "hgvsWellDefined": "XP_005262352.1:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_005262296.1:c.4352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262353.1:p.Arg1451His",
        "hgvsWellDefined": "XP_005262353.1:p.Arg1451His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4389,
          "referenceAllele": "G",
          "start": 4388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_005262297.3:c.4292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262354.1:p.Arg1431His",
        "hgvsWellDefined": "XP_005262354.1:p.Arg1431His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5119,
          "referenceAllele": "G",
          "start": 5118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_006724682.2:c.3974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724745.1:p.Arg1325His",
        "hgvsWellDefined": "XP_006724745.1:p.Arg1325His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_011531016.1:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529318.1:p.Arg1452His",
        "hgvsWellDefined": "XP_011529318.1:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XR_938407.1:n.4365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4387,
          "referenceAllele": "G",
          "start": 4386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_005262297.4:c.4292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262354.1:p.Arg1431His",
        "hgvsWellDefined": "XP_005262354.1:p.Arg1431His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4327,
          "referenceAllele": "G",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_024452429.1:c.3974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308197.1:p.Arg1325His",
        "hgvsWellDefined": "XP_024308197.1:p.Arg1325His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "XM_024452430.1:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308198.1:p.Arg1452His",
        "hgvsWellDefined": "XP_024308198.1:p.Arg1452His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826702402",
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_001286074.2:c.4295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273003.2:p.Arg1432His",
        "hgvsWellDefined": "NP_001273003.2:p.Arg1432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573240234",
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_004606.5:c.4295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004597.3:p.Arg1432His",
        "hgvsWellDefined": "NP_004597.3:p.Arg1432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423759.6:c.4295G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004606.5:c.4295G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406549.2:p.Arg1432His"
          },
          "RefSeq": {
            "hgvs": "NP_004597.3:p.Arg1432His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830266955",
      "coordinates": [
        {
          "allele": "A",
          "end": 4250,
          "referenceAllele": "G",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NM_138923.4:c.4232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_620278.2:p.Arg1411His",
        "hgvsWellDefined": "NP_620278.2:p.Arg1411His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104387.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104388.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104389.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104390.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104391.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104392.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104393.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104394.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011535",
      "geneNCBI_id": 6872,
      "geneSymbol": "TAF1",
      "hgvs": [
        "NR_104395.2:n.4313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703006"
    }
  ],
  "type": "nucleotide"
}