{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10392447", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1200104[alleleid]", "alleleId": 1200104, "preferredName": "NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1209935", "RCV": [ "RCV001579524", "RCV001866091", "RCV002573249", "RCV003399389" ], "variationId": 1209935 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-44923001-G-A", "id": "X-44923001-G-A", "variant": "X:44923001 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44923001G>A?assembly=hg19", "id": "chrX:g.44923001G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45063756G>A?assembly=hg38", "id": "chrX:g.45063756G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369284316", "rs": 369284316 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-44923001-G-A?dataset=gnomad_r2_1", "id": "X-44923001-G-A", "variant": "X:44923001 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-45063756-G-A?dataset=gnomad_r3", "id": "X-45063756-G-A", "variant": "X:45063756 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-45063756-G-A?dataset=gnomad_r4", "id": "X-45063756-G-A", "variant": "X:45063756 G / A" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 45063756, "referenceAllele": "G", "start": 45063755 } ], "hgvs": [ "NC_000023.11:g.45063756G>A", "CM000685.2:g.45063756G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 44923001, "referenceAllele": "G", "start": 44923000 } ], "hgvs": [ "NC_000023.10:g.44923001G>A", "CM000685.1:g.44923001G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 44807945, "referenceAllele": "G", "start": 44807944 } ], "hgvs": [ "NC_000023.9:g.44807945G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 195579, "referenceAllele": "G", "start": 195578 } ], "hgvs": [ "NG_016260.1:g.195579G>A", "LRG_616:g.195579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1531, "referenceAllele": "G", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.1531G>A" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1531G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "A", "end": 1762, "referenceAllele": "G", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.1762G>A" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.1762G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.1781G>A" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Arg594His", "hgvsWellDefined": "ENSP00000507416.1:p.Arg594His" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*1345G>A" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*1345G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "G", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.1883G>A" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Arg628His", "hgvsWellDefined": "ENSP00000508379.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "A", "end": 2226, "referenceAllele": "G", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.1862G>A" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg621His", "hgvsWellDefined": "ENSP00000367203.4:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.1883G>A" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Arg628His", "hgvsWellDefined": "ENSP00000372355.6:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.1727G>A" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Arg576His", "hgvsWellDefined": "ENSP00000437405.3:p.Arg576His" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "A", "end": 1989, "referenceAllele": "G", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.1625G>A" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Arg542His", "hgvsWellDefined": "ENSP00000443078.3:p.Arg542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "A", "end": 2382, "referenceAllele": "G", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.2018G>A" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Arg673His", "hgvsWellDefined": "ENSP00000483595.2:p.Arg673His" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2018G>A" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2018G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg673His" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg673His" } } } }, { "coordinates": [ { "allele": "A", "end": 1970, "referenceAllele": "G", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*1150G>A" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*1150G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "A", "end": 2145, "referenceAllele": "G", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.1781G>A" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Arg594His", "hgvsWellDefined": "ENSP00000502150.1:p.Arg594His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "G", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.1940G>A" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Arg647His", "hgvsWellDefined": "ENSP00000502660.1:p.Arg647His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "A", "end": 2126, "referenceAllele": "G", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*1306G>A" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*1306G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "A", "end": 2920, "referenceAllele": "G", "start": 2919 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.2920G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "A", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.1724G>A" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Arg575His", "hgvsWellDefined": "ENSP00000502060.1:p.Arg575His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.1469G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "A", "end": 1902, "referenceAllele": "G", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.1902G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "A", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.2038G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "A", "end": 2226, "referenceAllele": "G", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.1862G>A" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Arg621His", "hgvsWellDefined": "ENSP00000502759.1:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "A", "end": 3984, "referenceAllele": "G", "start": 3983 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.3984G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "G", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675546.1:n.2229G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775348" }, { "coordinates": [ { "allele": "A", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.1760G>A" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Arg587His", "hgvsWellDefined": "ENSP00000501855.1:p.Arg587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "A", "end": 2038, "referenceAllele": "G", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.2038G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.1883G>A" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Arg628His", "hgvsWellDefined": "ENSP00000502311.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "A", "end": 1868, "referenceAllele": "G", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*1048G>A" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*1048G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "A", "end": 2197, "referenceAllele": "G", "start": 2196 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*1452G>A" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*1452G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.1883G>A" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Arg628His", "hgvsWellDefined": "ENSP00000501761.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "A", "end": 1842, "referenceAllele": "G", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.1842G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "A", "end": 1903, "referenceAllele": "G", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.1862G>A" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg621His", "hgvsWellDefined": "ENSP00000367203.4:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "A", "end": 2258, "referenceAllele": "G", "start": 2257 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.1811G>A" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Arg604His", "hgvsWellDefined": "ENSP00000372355.5:p.Arg604His" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.654G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000433797.5:c.789G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS292713" }, { "coordinates": [ { "allele": "A", "end": 2102, "referenceAllele": "G", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.1655G>A" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Arg552His", "hgvsWellDefined": "ENSP00000437405.2:p.Arg552His" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "A", "end": 2156, "referenceAllele": "G", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.1709G>A" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Arg570His", "hgvsWellDefined": "ENSP00000443078.2:p.Arg570His" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "A", "end": 2393, "referenceAllele": "G", "start": 2392 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.1946G>A" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Arg649His", "hgvsWellDefined": "ENSP00000483595.1:p.Arg649His" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "A", "end": 1531, "referenceAllele": "G", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.1531G>A" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1531G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "@id": "http://reg.genome.network/allele/PA2499246384", "coordinates": [ { "allele": "A", "end": 2395, "referenceAllele": "G", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.2018G>A", "LRG_616t1:c.2018G>A" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg673His", "hgvsWellDefined": "NP_001278344.1:p.Arg673His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "@id": "http://reg.genome.network/allele/PA2826796891", "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "G", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.1883G>A" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg628His", "hgvsWellDefined": "NP_001278345.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797452", "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "G", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.1727G>A" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg576His", "hgvsWellDefined": "NP_001278346.1:p.Arg576His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826797995", "coordinates": [ { "allele": "A", "end": 2002, "referenceAllele": "G", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg542His", "hgvsWellDefined": "NP_001278347.1:p.Arg542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA2826798433", "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.974G>A" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg325His", "hgvsWellDefined": "NP_001278350.1:p.Arg325His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "@id": "http://reg.genome.network/allele/PA2829966847", "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.1862G>A" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg621His", "hgvsWellDefined": "NP_066963.2:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "A", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.2158G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "A", "end": 2293, "referenceAllele": "G", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.1916G>A" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg639His", "hgvsWellDefined": "XP_005272713.1:p.Arg639His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.1760G>A" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg587His", "hgvsWellDefined": "XP_005272716.1:p.Arg587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "A", "end": 2452, "referenceAllele": "G", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.2075G>A" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Arg692His", "hgvsWellDefined": "XP_011542259.1:p.Arg692His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "A", "end": 2395, "referenceAllele": "G", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.2018G>A" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg673His", "hgvsWellDefined": "XP_011542260.1:p.Arg673His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "A", "end": 2350, "referenceAllele": "G", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.1973G>A" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Arg658His", "hgvsWellDefined": "XP_011542261.1:p.Arg658His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "A", "end": 2452, "referenceAllele": "G", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.2075G>A" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Arg692His", "hgvsWellDefined": "XP_011542262.1:p.Arg692His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "A", "end": 2317, "referenceAllele": "G", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.1940G>A" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Arg647His", "hgvsWellDefined": "XP_011542263.1:p.Arg647His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "A", "end": 2296, "referenceAllele": "G", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.1919G>A" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Arg640His", "hgvsWellDefined": "XP_011542264.1:p.Arg640His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "A", "end": 2260, "referenceAllele": "G", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.1883G>A" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg628His", "hgvsWellDefined": "XP_011542265.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.1862G>A" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg621His", "hgvsWellDefined": "XP_011542266.1:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "A", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.1838G>A" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Arg613His", "hgvsWellDefined": "XP_011542267.1:p.Arg613His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.1817G>A" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Arg606His", "hgvsWellDefined": "XP_011542268.1:p.Arg606His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "A", "end": 2296, "referenceAllele": "G", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.1919G>A" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Arg640His", "hgvsWellDefined": "XP_011542269.1:p.Arg640His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "A", "end": 2161, "referenceAllele": "G", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.1784G>A" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Arg595His", "hgvsWellDefined": "XP_011542270.1:p.Arg595His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "A", "end": 2158, "referenceAllele": "G", "start": 2157 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.1781G>A" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg594His", "hgvsWellDefined": "XP_011542271.1:p.Arg594His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.1760G>A" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg587His", "hgvsWellDefined": "XP_011542272.1:p.Arg587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "A", "end": 2215, "referenceAllele": "G", "start": 2214 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.1838G>A" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Arg613His", "hgvsWellDefined": "XP_011542273.1:p.Arg613His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "A", "end": 2104, "referenceAllele": "G", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.1727G>A" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg576His", "hgvsWellDefined": "XP_011542274.1:p.Arg576His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "A", "end": 2161, "referenceAllele": "G", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.1784G>A" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Arg595His", "hgvsWellDefined": "XP_011542275.1:p.Arg595His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "A", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.1862G>A" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg621His", "hgvsWellDefined": "XP_011542276.1:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.1265G>A" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg422His", "hgvsWellDefined": "XP_011542277.1:p.Arg422His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "A", "end": 2452, "referenceAllele": "G", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.2075G>A" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Arg692His", "hgvsWellDefined": "XP_011542278.1:p.Arg692His" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "A", "end": 2452, "referenceAllele": "G", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.2452G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "A", "end": 2286, "referenceAllele": "G", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.1916G>A" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg639His", "hgvsWellDefined": "XP_005272713.1:p.Arg639His" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "A", "end": 2130, "referenceAllele": "G", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.1760G>A" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg587His", "hgvsWellDefined": "XP_005272716.1:p.Arg587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "A", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.2018G>A" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg673His", "hgvsWellDefined": "XP_011542260.1:p.Arg673His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "A", "end": 2253, "referenceAllele": "G", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.1883G>A" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg628His", "hgvsWellDefined": "XP_011542265.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "A", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.1862G>A" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg621His", "hgvsWellDefined": "XP_011542266.1:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "A", "end": 2151, "referenceAllele": "G", "start": 2150 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.1781G>A" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg594His", "hgvsWellDefined": "XP_011542271.1:p.Arg594His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "A", "end": 2130, "referenceAllele": "G", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.1760G>A" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg587His", "hgvsWellDefined": "XP_011542272.1:p.Arg587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "A", "end": 2097, "referenceAllele": "G", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.1727G>A" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg576His", "hgvsWellDefined": "XP_011542274.1:p.Arg576His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "A", "end": 2232, "referenceAllele": "G", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.1862G>A" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg621His", "hgvsWellDefined": "XP_011542276.1:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.1265G>A" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg422His", "hgvsWellDefined": "XP_011542277.1:p.Arg422His" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "A", "end": 2151, "referenceAllele": "G", "start": 2150 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.1781G>A" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Arg594His", "hgvsWellDefined": "XP_016885272.1:p.Arg594His" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "A", "end": 1705, "referenceAllele": "G", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.1130G>A" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Arg377His", "hgvsWellDefined": "XP_016885273.1:p.Arg377His" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "G", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.872G>A" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Arg291His", "hgvsWellDefined": "XP_016885274.1:p.Arg291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "A", "end": 2286, "referenceAllele": "G", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.1916G>A" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Arg639His", "hgvsWellDefined": "XP_024308206.1:p.Arg639His" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "A", "end": 2026, "referenceAllele": "G", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.1493G>A" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Arg498His", "hgvsWellDefined": "XP_024308207.1:p.Arg498His" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "A", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.2388G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA2499246384", "coordinates": [ { "allele": "A", "end": 2382, "referenceAllele": "G", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.2018G>A" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg673His", "hgvsWellDefined": "NP_001278344.1:p.Arg673His" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2018G>A" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2018G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg673His" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg673His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826796891", "coordinates": [ { "allele": "A", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.1883G>A" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg628His", "hgvsWellDefined": "NP_001278345.1:p.Arg628His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797452", "coordinates": [ { "allele": "A", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.1727G>A" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg576His", "hgvsWellDefined": "NP_001278346.1:p.Arg576His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826797995", "coordinates": [ { "allele": "A", "end": 1989, "referenceAllele": "G", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.1625G>A" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg542His", "hgvsWellDefined": "NP_001278347.1:p.Arg542His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2826798433", "coordinates": [ { "allele": "A", "end": 1970, "referenceAllele": "G", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.974G>A" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg325His", "hgvsWellDefined": "NP_001278350.1:p.Arg325His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829966847", "coordinates": [ { "allele": "A", "end": 2226, "referenceAllele": "G", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.1862G>A" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg621His", "hgvsWellDefined": "NP_066963.2:p.Arg621His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "A", "end": 2145, "referenceAllele": "G", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.2145G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }