{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10392392",
  "communityStandardTitle": [
    "NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1637154[alleleid]",
        "alleleId": 1637154,
        "preferredName": "NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1573439",
        "RCV": [
          "RCV002216044",
          "RCV002243513",
          "RCV003006995"
        ],
        "variationId": 1573439
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-44921981-G-C",
        "id": "X-44921981-G-C",
        "variant": "X:44921981 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.44921981G>C?assembly=hg19",
        "id": "chrX:g.44921981G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.45062736G>C?assembly=hg38",
        "id": "chrX:g.45062736G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368984079",
        "rs": 368984079
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-44921981-G-C?dataset=gnomad_r2_1",
        "id": "X-44921981-G-C",
        "variant": "X:44921981 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-45062736-G-C?dataset=gnomad_r3",
        "id": "X-45062736-G-C",
        "variant": "X:45062736 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-45062736-G-C?dataset=gnomad_r4",
        "id": "X-45062736-G-C",
        "variant": "X:45062736 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 45062736,
          "referenceAllele": "G",
          "start": 45062735
        }
      ],
      "hgvs": [
        "NC_000023.11:g.45062736G>C",
        "CM000685.2:g.45062736G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 44921981,
          "referenceAllele": "G",
          "start": 44921980
        }
      ],
      "hgvs": [
        "NC_000023.10:g.44921981G>C",
        "CM000685.1:g.44921981G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 44806925,
          "referenceAllele": "G",
          "start": 44806924
        }
      ],
      "hgvs": [
        "NC_000023.9:g.44806925G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194559,
          "referenceAllele": "G",
          "start": 194558
        }
      ],
      "hgvs": [
        "NG_016260.1:g.194559G>C",
        "LRG_616:g.194559G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.5:c.1197-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:n.1197-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000682908.1:c.1415G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508158.1:n.1415G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1446,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1446,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683021.1:c.1447-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507416.1:n.1447-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000683425.1:c.*998G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507291.1:n.*998G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000684352.1:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508379.1:p.Met512Ile",
        "hgvsWellDefined": "ENSP00000508379.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.9:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Met505Ile",
        "hgvsWellDefined": "ENSP00000367203.4:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.9:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.6:p.Met512Ile",
        "hgvsWellDefined": "ENSP00000372355.6:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.6:c.1380G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.3:p.Met460Ile",
        "hgvsWellDefined": "ENSP00000437405.3:p.Met460Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1654,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.6:c.1291-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.3:n.1291-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2035,
          "referenceAllele": "G",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.5:c.1671G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.2:p.Met557Ile",
        "hgvsWellDefined": "ENSP00000483595.2:p.Met557Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.1671G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.1671G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Met557Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Met557Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674541.1:c.*803G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501919.1:n.*803G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1810,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674564.1:c.1447-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502150.1:n.1447-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674586.1:c.1593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502660.1:p.Met531Ile",
        "hgvsWellDefined": "ENSP00000502660.1:p.Met531Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "G",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674659.1:c.*959G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502255.1:n.*959G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674739.1:n.1900G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1741,
          "referenceAllele": "G",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000674867.1:c.1377G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502060.1:p.Met459Ile",
        "hgvsWellDefined": "ENSP00000502060.1:p.Met459Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1134,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675157.1:n.1135-686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675182.1:n.1555G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "G",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675440.1:n.1691G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675514.1:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502759.1:p.Met505Ile",
        "hgvsWellDefined": "ENSP00000502759.1:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3637,
          "referenceAllele": "G",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675525.1:n.3637G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675546.1:n.1209G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675577.1:c.1426-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501855.1:n.1426-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "G",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000675816.1:n.1691G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676062.1:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502311.1:p.Met512Ile",
        "hgvsWellDefined": "ENSP00000502311.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676085.1:c.*714-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501752.1:n.*714-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676133.1:c.*1105G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502586.1:n.*1105G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676343.1:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501761.1:p.Met512Ile",
        "hgvsWellDefined": "ENSP00000501761.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000676389.1:n.1495G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000377967.8:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367203.4:p.Met505Ile",
        "hgvsWellDefined": "ENSP00000367203.4:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000382899.8:c.1464G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372355.5:p.Met488Ile",
        "hgvsWellDefined": "ENSP00000372355.5:p.Met488Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000414389.5:c.307G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000433797.5:c.442G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 416,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000451692.5:c.417-686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000536777.5:c.1308G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437405.2:p.Met436Ile",
        "hgvsWellDefined": "ENSP00000437405.2:p.Met436Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000543216.5:c.1375-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443078.2:n.1375-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2046,
          "referenceAllele": "G",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000611820.4:c.1599G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483595.1:p.Met533Ile",
        "hgvsWellDefined": "ENSP00000483595.1:p.Met533Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "ENST00000621147.4:c.1197-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478793.1:n.1197-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573195156",
      "coordinates": [
        {
          "allele": "C",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.1:c.1671G>C",
        "LRG_616t1:c.1671G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Met557Ile",
        "hgvsWellDefined": "NP_001278344.1:p.Met557Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826796839",
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.1:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Met512Ile",
        "hgvsWellDefined": "NP_001278345.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797401",
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.1:c.1380G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Met460Ile",
        "hgvsWellDefined": "NP_001278346.1:p.Met460Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1667,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.1:c.1291-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:n.1291-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798381",
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "referenceAllele": "G",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.1:c.627G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:p.Met209Ile",
        "hgvsWellDefined": "NP_001278350.1:p.Met209Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829966739",
      "coordinates": [
        {
          "allele": "C",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.3:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Met505Ile",
        "hgvsWellDefined": "NP_066963.2:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1823,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.1:n.1824-686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1958,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1958,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.3:c.1582-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:n.1582-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1802,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.3:c.1426-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:n.1426-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543957.1:c.1728G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542259.1:p.Met576Ile",
        "hgvsWellDefined": "XP_011542259.1:p.Met576Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.1:c.1671G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Met557Ile",
        "hgvsWellDefined": "XP_011542260.1:p.Met557Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2015,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543959.1:c.1639-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542261.1:n.1639-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543960.1:c.1728G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542262.1:p.Met576Ile",
        "hgvsWellDefined": "XP_011542262.1:p.Met576Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543961.1:c.1593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542263.1:p.Met531Ile",
        "hgvsWellDefined": "XP_011542263.1:p.Met531Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543962.1:c.1572G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542264.1:p.Met524Ile",
        "hgvsWellDefined": "XP_011542264.1:p.Met524Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.1:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Met512Ile",
        "hgvsWellDefined": "XP_011542265.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.1:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Met505Ile",
        "hgvsWellDefined": "XP_011542266.1:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543965.1:c.1504-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542267.1:n.1504-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1859,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1859,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543966.1:c.1483-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542268.1:n.1483-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543967.1:c.1572G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542269.1:p.Met524Ile",
        "hgvsWellDefined": "XP_011542269.1:p.Met524Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543968.1:c.1437G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542270.1:p.Met479Ile",
        "hgvsWellDefined": "XP_011542270.1:p.Met479Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1823,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.1:c.1447-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:n.1447-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1802,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.1:c.1426-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:n.1426-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543971.1:c.1504-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542273.1:n.1504-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.1:c.1380G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Met460Ile",
        "hgvsWellDefined": "XP_011542274.1:p.Met460Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543973.1:c.1437G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542275.1:p.Met479Ile",
        "hgvsWellDefined": "XP_011542275.1:p.Met479Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543974.1:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542276.1:p.Met505Ile",
        "hgvsWellDefined": "XP_011542276.1:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.1:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:p.Met306Ile",
        "hgvsWellDefined": "XP_011542277.1:p.Met306Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543976.1:c.1728G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542278.1:p.Met576Ile",
        "hgvsWellDefined": "XP_011542278.1:p.Met576Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_949018.1:n.2105G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272656.5:c.1582-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272713.1:n.1582-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1795,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1795,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_005272659.5:c.1426-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272716.1:n.1426-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543958.3:c.1671G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542260.1:p.Met557Ile",
        "hgvsWellDefined": "XP_011542260.1:p.Met557Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543963.3:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542265.1:p.Met512Ile",
        "hgvsWellDefined": "XP_011542265.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543964.3:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542266.1:p.Met505Ile",
        "hgvsWellDefined": "XP_011542266.1:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1816,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543969.3:c.1447-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542271.1:n.1447-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1795,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1795,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543970.3:c.1426-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542272.1:n.1426-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543972.3:c.1380G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542274.1:p.Met460Ile",
        "hgvsWellDefined": "XP_011542274.1:p.Met460Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543974.2:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542276.1:p.Met505Ile",
        "hgvsWellDefined": "XP_011542276.1:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_011543975.2:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542277.1:p.Met306Ile",
        "hgvsWellDefined": "XP_011542277.1:p.Met306Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1816,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029783.2:c.1447-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885272.1:n.1447-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029784.1:c.783G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885273.1:p.Met261Ile",
        "hgvsWellDefined": "XP_016885273.1:p.Met261Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1343,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_017029785.1:c.538-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885274.1:n.538-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1951,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452438.1:c.1582-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308206.1:n.1582-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XM_024452439.1:c.1146G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308207.1:p.Met382Ile",
        "hgvsWellDefined": "XP_024308207.1:p.Met382Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "XR_002958804.1:n.2041G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573195156",
      "coordinates": [
        {
          "allele": "C",
          "end": 2035,
          "referenceAllele": "G",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291415.2:c.1671G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278344.1:p.Met557Ile",
        "hgvsWellDefined": "NP_001278344.1:p.Met557Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000611820.5:c.1671G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291415.2:c.1671G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483595.2:p.Met557Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278344.1:p.Met557Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826796839",
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291416.2:c.1536G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278345.1:p.Met512Ile",
        "hgvsWellDefined": "NP_001278345.1:p.Met512Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826797401",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.2:c.1380G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Met460Ile",
        "hgvsWellDefined": "NP_001278346.1:p.Met460Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1654,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.2:c.1291-686G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:n.1291-686G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798381",
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.2:c.627G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:p.Met209Ile",
        "hgvsWellDefined": "NP_001278350.1:p.Met209Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829966739",
      "coordinates": [
        {
          "allele": "C",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.4:c.1515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Met505Ile",
        "hgvsWellDefined": "NP_066963.2:p.Met505Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "G",
          "start": 1810,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.2:n.1811-686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730732"
    }
  ],
  "type": "nucleotide"
}