{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA200205", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181481[alleleid]", "alleleId": 181481, "preferredName": "NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183368", "RCV": [ "RCV000172945" ], "variationId": 183368 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44913077G>A?assembly=hg19", "id": "chrX:g.44913077G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45053832G>A?assembly=hg38", "id": "chrX:g.45053832G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/793888509", "rs": 793888509 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 45053832, "referenceAllele": "G", "start": 45053831 } ], "hgvs": [ "NC_000023.11:g.45053832G>A", "CM000685.2:g.45053832G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 44913077, "referenceAllele": "G", "start": 44913076 } ], "hgvs": [ "NC_000023.10:g.44913077G>A", "CM000685.1:g.44913077G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 44798021, "referenceAllele": "G", "start": 44798020 } ], "hgvs": [ "NC_000023.9:g.44798021G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 185655, "referenceAllele": "G", "start": 185654 } ], "hgvs": [ "NG_016260.1:g.185655G>A", "LRG_616:g.185655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:p.Gly220Arg", "hgvsWellDefined": "ENSP00000478793.1:p.Gly220Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "G", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682127.1:n.897G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827124" }, { "coordinates": [ { "allele": "A", "end": 631, "referenceAllele": "G", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.631G>A" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.631G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "G", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*214G>A" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*214G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Trp251Ter", "hgvsWellDefined": "ENSP00000508379.1:p.Trp251_Pro842delinsMetHisHisThrValAspLeuLeuGlyAspLysAlaThrLysGluSerTyrAlaIleGlnTyrLeuGlnLysSerLeuGluAlaAspProAsnSerGlyGlnSerTrpTyrPheLeuGlyArgCysTyrSerSerIleGlyLysValGlnAspAlaPheIleSerTyrArgGlnSerIleAspLysSerGluAlaSerAlaAspThrTrpCysSerIleGlyValLeuTyrGlnGlnGlnAsnGlnProMetAspAlaLeuGlnAlaTyrIleCysAlaValGlnLeuAspHisGlyHisAlaAlaAlaTrpMetAspLeuGlyThrLeuTyrGluSerCysAsnGlnProGlnAspAlaIleLysCysTyrLeuAsnAlaThrArgSerLysSerCysSerAsnThrSerAlaLeuAlaAlaArgIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.752G>A" }, "RefSeq": { "hgvs": "NM_001291415.2:c.752G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Trp251Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Trp251Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*175G>A" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.809G>A" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*175G>A" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.1116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.593G>A" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Trp198Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.596G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.636G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.907G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Trp251Ter", "hgvsWellDefined": "ENSP00000502759.1:p.Trp251_Lys1129delinsMetHisHisThrValAspLeuLeuGlyAspLysAlaThrLysGluSerTyrAlaIleGlnTyrLeuGlnLysSerLeuGluAlaAspProAsnSerGlyGlnSerTrpTyrPheLeuGlyArgCysTyrSerSerIleGlyLysValGlnAspAlaPheIleSerTyrArgGlnSerIleAspLysSerGluAlaSerAlaAspThrTrpCysSerIleGlyValLeuTyrGlnGlnGlnAsnGlnProMetAspAlaLeuGlnAlaTyrIleCysAlaValGlnLeuAspHisGlyHisAlaAlaAlaTrpMetAspLeuGlyThrLeuTyrGluSerCysAsnGlnProGlnAspAlaIleLysCysTyrLeuAsnAlaThrArgSerLysSerCysSerAsnThrSerAlaLeuAlaAlaArgIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "A", "end": 2853, "referenceAllele": "G", "start": 2852 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.2853G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "G", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.907G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*175G>A" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "A", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*321G>A" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*321G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.711G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "G", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.680G>A" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Trp227Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.680G>A" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Trp227Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.680G>A" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Trp227Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.680G>A" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Trp227Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.658G>A" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:p.Gly220Arg", "hgvsWellDefined": "ENSP00000478793.1:p.Gly220Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.752G>A", "LRG_616t1:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.-2G>A" ], "proteinEffect": { "hgvs": "NP_001278350.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.752G>A" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.1129G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Trp270Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.-2G>A" ], "proteinEffect": { "hgvs": "XP_011542277.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.809G>A" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Trp270Ter", "hgvsWellDefined": "XP_011542278.1:p.Trp270_Ile1218delinsMetHisHisThrValAspLeuLeuGlyAspLysAlaThrLysGluSerTyrAlaIleGlnTyrLeuGlnLysSerLeuGluAlaAspProAsnSerGlyGlnSerTrpTyrPheLeuGlyArgCysTyrSerSerIleGlyLysValGlnAspAlaPheIleSerTyrArgGlnSerIleAspLysSerGluAlaSerAlaAspThrTrpCysSerIleGlyValLeuTyrGlnGlnGlnAsnGlnProMetAspAlaLeuGlnAlaTyrIleCysAlaValGlnLeuAspHisGlyHisAlaAlaAlaTrpMetAspLeuGlyThrLeuTyrGluSerCysAsnGlnProGlnAspAlaIleLysCysTyrLeuAsnAlaThrArgSerLysSerCysSerAsnThrSerAlaLeuAlaAlaArgIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGluIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "A", "end": 1186, "referenceAllele": "G", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.1186G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.752G>A" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.752G>A" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.752G>A" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.-2G>A" ], "proteinEffect": { "hgvs": "XP_011542277.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.752G>A" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.-2G>A" ], "proteinEffect": { "hgvs": "XP_016885273.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "A", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.-2G>A" ], "proteinEffect": { "hgvs": "XP_016885274.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.752G>A" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.227G>A" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Trp76Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.1122G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.752G>A" }, "RefSeq": { "hgvs": "NM_001291415.2:c.752G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Trp251Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Trp251Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.-2G>A" ], "proteinEffect": { "hgvs": "NP_001278350.1:n.-2G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.752G>A" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Trp251Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.1116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }