{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172363",
  "communityStandardTitle": [
    "NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170111[alleleid]",
        "alleleId": 170111,
        "preferredName": "NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158691",
        "RCV": [
          "RCV000146127",
          "RCV000176888"
        ],
        "variationId": 158691
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.44969370G>A?assembly=hg19",
        "id": "chrX:g.44969370G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.45110125G>A?assembly=hg38",
        "id": "chrX:g.45110125G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370765411",
        "rs": 370765411
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-44969370-G-A?dataset=gnomad_r2_1",
        "id": "X-44969370-G-A",
        "variant": "X:44969370 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-45110125-G-A?dataset=gnomad_r4",
        "id": "X-45110125-G-A",
        "variant": "X:45110125 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 45110125,
          "referenceAllele": "G",
          "start": 45110124
        }
      ],
      "hgvs": [
        "NC_000023.11:g.45110125G>A",
        "CM000685.2:g.45110125G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 44969370,
          "referenceAllele": "G",
          "start": 44969369
        }
      ],
      "hgvs": [
        "NC_000023.10:g.44969370G>A",
        "CM000685.1:g.44969370G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 44854314,
          "referenceAllele": "G",
          "start": 44854313
        }
      ],
      "hgvs": [
        "NC_000023.9:g.44854314G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241948,
          "referenceAllele": "G",
          "start": 241947
        }
      ],
      "hgvs": [
        "NG_016260.1:g.241948G>A",
        "LRG_616:g.241948G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000682908.1:c.3952G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508158.1:n.3952G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3971,
          "referenceAllele": "G",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683021.1:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507416.1:p.Arg1324Gln",
        "hgvsWellDefined": "ENSP00000507416.1:p.Arg1324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4050,
          "referenceAllele": "G",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683425.1:c.*3535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507291.1:n.*3535G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3982,
          "referenceAllele": "G",
          "start": 3981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000684352.1:c.3982G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508379.1:n.3982G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4416,
          "referenceAllele": "G",
          "start": 4415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.9:c.4052G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Arg1351Gln",
        "hgvsWellDefined": "ENSP00000367203.4:p.Arg1351Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.9:c.4073G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.6:p.Arg1358Gln",
        "hgvsWellDefined": "ENSP00000372355.6:p.Arg1358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000431196.3:c.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000479423.2:n.3360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4281,
          "referenceAllele": "G",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.6:c.3917G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.3:p.Arg1306Gln",
        "hgvsWellDefined": "ENSP00000437405.3:p.Arg1306Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.6:c.3815G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.3:p.Arg1272Gln",
        "hgvsWellDefined": "ENSP00000443078.3:p.Arg1272Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4572,
          "referenceAllele": "G",
          "start": 4571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.5:c.4208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.2:p.Arg1403Gln",
        "hgvsWellDefined": "ENSP00000483595.2:p.Arg1403Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.4208G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.4208G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Arg1403Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Arg1403Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4160,
          "referenceAllele": "G",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674541.1:c.*3340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501919.1:n.*3340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4303,
          "referenceAllele": "G",
          "start": 4302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674564.1:c.*57G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502150.1:n.*57G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "G",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674586.1:c.4130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502660.1:p.Arg1377Gln",
        "hgvsWellDefined": "ENSP00000502660.1:p.Arg1377Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4110,
          "referenceAllele": "G",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674659.1:c.*3290G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502255.1:n.*3290G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5110,
          "referenceAllele": "G",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674739.1:n.5110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4278,
          "referenceAllele": "G",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674867.1:c.3914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502060.1:p.Arg1305Gln",
        "hgvsWellDefined": "ENSP00000502060.1:p.Arg1305Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3659,
          "referenceAllele": "G",
          "start": 3658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675157.1:n.3659G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675182.1:n.4092G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4357,
          "referenceAllele": "G",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675514.1:c.*603G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502759.1:n.*603G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6174,
          "referenceAllele": "G",
          "start": 6173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675525.1:n.6174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10832,
          "referenceAllele": "G",
          "start": 10831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675546.1:n.10832G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4314,
          "referenceAllele": "G",
          "start": 4313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675577.1:c.3950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501855.1:p.Arg1317Gln",
        "hgvsWellDefined": "ENSP00000501855.1:p.Arg1317Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5096,
          "referenceAllele": "G",
          "start": 5095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675816.1:n.5096G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4609,
          "referenceAllele": "G",
          "start": 4608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676062.1:c.*234G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502311.1:n.*234G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676085.1:c.*3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501752.1:n.*3238G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4850,
          "referenceAllele": "G",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676133.1:c.*4105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502586.1:n.*4105G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4295,
          "referenceAllele": "G",
          "start": 4294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676343.1:c.*160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501761.1:n.*160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4495,
          "referenceAllele": "G",
          "start": 4494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676389.1:n.4495G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.8:c.4052G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Arg1351Gln",
        "hgvsWellDefined": "ENSP00000367203.4:p.Arg1351Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4448,
          "referenceAllele": "G",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.8:c.4001G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.5:p.Arg1334Gln",
        "hgvsWellDefined": "ENSP00000372355.5:p.Arg1334Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000414389.5:c.2844G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000431196.2:c.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2979,
          "referenceAllele": "G",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000433797.5:c.2979G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000479423.1:n.644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4292,
          "referenceAllele": "G",
          "start": 4291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.5:c.3845G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.2:p.Arg1282Gln",
        "hgvsWellDefined": "ENSP00000437405.2:p.Arg1282Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4314,
          "referenceAllele": "G",
          "start": 4313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.5:c.*57G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.2:n.*57G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4583,
          "referenceAllele": "G",
          "start": 4582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.4:c.4136G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.1:p.Arg1379Gln",
        "hgvsWellDefined": "ENSP00000483595.1:p.Arg1379Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.4:c.2722G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:n.2722G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172366",
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "G",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.1:c.4208G>A",
        "LRG_616t1:c.4208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Arg1403Gln",
        "hgvsWellDefined": "NP_001278344.1:p.Arg1403Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797185",
      "coordinates": [
        {
          "allele": "A",
          "end": 4450,
          "referenceAllele": "G",
          "start": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.1:c.4073G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Arg1358Gln",
        "hgvsWellDefined": "NP_001278345.1:p.Arg1358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797746",
      "coordinates": [
        {
          "allele": "A",
          "end": 4294,
          "referenceAllele": "G",
          "start": 4293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.1:c.3917G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Arg1306Gln",
        "hgvsWellDefined": "NP_001278346.1:p.Arg1306Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798288",
      "coordinates": [
        {
          "allele": "A",
          "end": 4192,
          "referenceAllele": "G",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.1:c.3815G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:p.Arg1272Gln",
        "hgvsWellDefined": "NP_001278347.1:p.Arg1272Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798667",
      "coordinates": [
        {
          "allele": "A",
          "end": 4173,
          "referenceAllele": "G",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.1:c.3164G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:p.Arg1055Gln",
        "hgvsWellDefined": "NP_001278350.1:p.Arg1055Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172365",
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.3:c.4052G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Arg1351Gln",
        "hgvsWellDefined": "NP_066963.2:p.Arg1351Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4316,
          "referenceAllele": "G",
          "start": 4315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.1:n.4316G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4483,
          "referenceAllele": "G",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.3:c.4106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:p.Arg1369Gln",
        "hgvsWellDefined": "XP_005272713.1:p.Arg1369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4327,
          "referenceAllele": "G",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.3:c.3950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:p.Arg1317Gln",
        "hgvsWellDefined": "XP_005272716.1:p.Arg1317Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4750,
          "referenceAllele": "G",
          "start": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543957.1:c.4373G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542259.1:p.Arg1458Gln",
        "hgvsWellDefined": "XP_011542259.1:p.Arg1458Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4693,
          "referenceAllele": "G",
          "start": 4692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.1:c.4316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Arg1439Gln",
        "hgvsWellDefined": "XP_011542260.1:p.Arg1439Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4648,
          "referenceAllele": "G",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543959.1:c.4271G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542261.1:p.Arg1424Gln",
        "hgvsWellDefined": "XP_011542261.1:p.Arg1424Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4642,
          "referenceAllele": "G",
          "start": 4641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543960.1:c.4265G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542262.1:p.Arg1422Gln",
        "hgvsWellDefined": "XP_011542262.1:p.Arg1422Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4615,
          "referenceAllele": "G",
          "start": 4614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543961.1:c.4238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542263.1:p.Arg1413Gln",
        "hgvsWellDefined": "XP_011542263.1:p.Arg1413Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4594,
          "referenceAllele": "G",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543962.1:c.4217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542264.1:p.Arg1406Gln",
        "hgvsWellDefined": "XP_011542264.1:p.Arg1406Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4558,
          "referenceAllele": "G",
          "start": 4557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.1:c.4181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Arg1394Gln",
        "hgvsWellDefined": "XP_011542265.1:p.Arg1394Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4537,
          "referenceAllele": "G",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.1:c.4160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Arg1387Gln",
        "hgvsWellDefined": "XP_011542266.1:p.Arg1387Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4513,
          "referenceAllele": "G",
          "start": 4512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543965.1:c.4136G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542267.1:p.Arg1379Gln",
        "hgvsWellDefined": "XP_011542267.1:p.Arg1379Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4492,
          "referenceAllele": "G",
          "start": 4491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543966.1:c.4115G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542268.1:p.Arg1372Gln",
        "hgvsWellDefined": "XP_011542268.1:p.Arg1372Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4486,
          "referenceAllele": "G",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543967.1:c.4109G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542269.1:p.Arg1370Gln",
        "hgvsWellDefined": "XP_011542269.1:p.Arg1370Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4459,
          "referenceAllele": "G",
          "start": 4458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543968.1:c.4082G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542270.1:p.Arg1361Gln",
        "hgvsWellDefined": "XP_011542270.1:p.Arg1361Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4456,
          "referenceAllele": "G",
          "start": 4455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.1:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:p.Arg1360Gln",
        "hgvsWellDefined": "XP_011542271.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4435,
          "referenceAllele": "G",
          "start": 4434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.1:c.4058G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:p.Arg1353Gln",
        "hgvsWellDefined": "XP_011542272.1:p.Arg1353Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "referenceAllele": "G",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543971.1:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542273.1:p.Arg1343Gln",
        "hgvsWellDefined": "XP_011542273.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4402,
          "referenceAllele": "G",
          "start": 4401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.1:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Arg1342Gln",
        "hgvsWellDefined": "XP_011542274.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543973.1:c.3974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542275.1:p.Arg1325Gln",
        "hgvsWellDefined": "XP_011542275.1:p.Arg1325Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3863,
          "referenceAllele": "G",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.1:c.3563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:p.Arg1188Gln",
        "hgvsWellDefined": "XP_011542277.1:p.Arg1188Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4476,
          "referenceAllele": "G",
          "start": 4475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.5:c.4106G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:p.Arg1369Gln",
        "hgvsWellDefined": "XP_005272713.1:p.Arg1369Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4320,
          "referenceAllele": "G",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.5:c.3950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:p.Arg1317Gln",
        "hgvsWellDefined": "XP_005272716.1:p.Arg1317Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4686,
          "referenceAllele": "G",
          "start": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.3:c.4316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Arg1439Gln",
        "hgvsWellDefined": "XP_011542260.1:p.Arg1439Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4551,
          "referenceAllele": "G",
          "start": 4550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.3:c.4181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Arg1394Gln",
        "hgvsWellDefined": "XP_011542265.1:p.Arg1394Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4530,
          "referenceAllele": "G",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.3:c.4160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Arg1387Gln",
        "hgvsWellDefined": "XP_011542266.1:p.Arg1387Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4449,
          "referenceAllele": "G",
          "start": 4448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.3:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:p.Arg1360Gln",
        "hgvsWellDefined": "XP_011542271.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4428,
          "referenceAllele": "G",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.3:c.4058G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:p.Arg1353Gln",
        "hgvsWellDefined": "XP_011542272.1:p.Arg1353Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4395,
          "referenceAllele": "G",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.3:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Arg1342Gln",
        "hgvsWellDefined": "XP_011542274.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3863,
          "referenceAllele": "G",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.2:c.3563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:p.Arg1188Gln",
        "hgvsWellDefined": "XP_011542277.1:p.Arg1188Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4341,
          "referenceAllele": "G",
          "start": 4340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029783.2:c.3971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885272.1:p.Arg1324Gln",
        "hgvsWellDefined": "XP_016885272.1:p.Arg1324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4003,
          "referenceAllele": "G",
          "start": 4002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029784.1:c.3428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885273.1:p.Arg1143Gln",
        "hgvsWellDefined": "XP_016885273.1:p.Arg1143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3868,
          "referenceAllele": "G",
          "start": 3867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029785.1:c.3062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885274.1:p.Arg1021Gln",
        "hgvsWellDefined": "XP_016885274.1:p.Arg1021Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4584,
          "referenceAllele": "G",
          "start": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452438.1:c.4214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308206.1:p.Arg1405Gln",
        "hgvsWellDefined": "XP_024308206.1:p.Arg1405Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4324,
          "referenceAllele": "G",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452439.1:c.3791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308207.1:p.Arg1264Gln",
        "hgvsWellDefined": "XP_024308207.1:p.Arg1264Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4750,
          "referenceAllele": "G",
          "start": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_002958804.1:n.4750G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172366",
      "coordinates": [
        {
          "allele": "A",
          "end": 4572,
          "referenceAllele": "G",
          "start": 4571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.2:c.4208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Arg1403Gln",
        "hgvsWellDefined": "NP_001278344.1:p.Arg1403Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.4208G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.4208G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Arg1403Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Arg1403Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797185",
      "coordinates": [
        {
          "allele": "A",
          "end": 4437,
          "referenceAllele": "G",
          "start": 4436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.2:c.4073G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Arg1358Gln",
        "hgvsWellDefined": "NP_001278345.1:p.Arg1358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797746",
      "coordinates": [
        {
          "allele": "A",
          "end": 4281,
          "referenceAllele": "G",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.2:c.3917G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Arg1306Gln",
        "hgvsWellDefined": "NP_001278346.1:p.Arg1306Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798288",
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.2:c.3815G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:p.Arg1272Gln",
        "hgvsWellDefined": "NP_001278347.1:p.Arg1272Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798667",
      "coordinates": [
        {
          "allele": "A",
          "end": 4160,
          "referenceAllele": "G",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.2:c.3164G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:p.Arg1055Gln",
        "hgvsWellDefined": "NP_001278350.1:p.Arg1055Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172365",
      "coordinates": [
        {
          "allele": "A",
          "end": 4416,
          "referenceAllele": "G",
          "start": 4415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.4:c.4052G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Arg1351Gln",
        "hgvsWellDefined": "NP_066963.2:p.Arg1351Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4303,
          "referenceAllele": "G",
          "start": 4302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.2:n.4303G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730732"
    }
  ],
  "type": "nucleotide"
}