{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412806633", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=650057[alleleid]", "alleleId": 650057, "preferredName": "NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648826", "RCV": [ "RCV000803634" ], "variationId": 648826 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44949023C>T?assembly=hg19", "id": "chrX:g.44949023C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45089778C>T?assembly=hg38", "id": "chrX:g.45089778C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1602985802", "rs": 1602985802 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 45089778, "referenceAllele": "C", "start": 45089777 } ], "hgvs": [ "NC_000023.11:g.45089778C>T", "CM000685.2:g.45089778C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44949023, "referenceAllele": "C", "start": 44949022 } ], "hgvs": [ "NC_000023.10:g.44949023C>T", "CM000685.1:g.44949023C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44833967, "referenceAllele": "C", "start": 44833966 } ], "hgvs": [ "NC_000023.9:g.44833967C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 221601, "referenceAllele": "C", "start": 221600 } ], "hgvs": [ "NG_016260.1:g.221601C>T", "LRG_616:g.221601C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3484, "referenceAllele": "C", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.3484C>T" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.3484C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "T", "end": 3503, "referenceAllele": "C", "start": 3502 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.3503C>T" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Pro1168Leu", "hgvsWellDefined": "ENSP00000507416.1:p.Pro1168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "T", "end": 3582, "referenceAllele": "C", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*3067C>T" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*3067C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "T", "end": 3514, "referenceAllele": "C", "start": 3513 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.3514C>T" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:n.3514C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "T", "end": 3948, "referenceAllele": "C", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.3584C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Pro1195Leu", "hgvsWellDefined": "ENSP00000367203.4:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.3605C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Pro1202Leu", "hgvsWellDefined": "ENSP00000372355.6:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "C", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.3449C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Pro1150Leu", "hgvsWellDefined": "ENSP00000437405.3:p.Pro1150Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.3347C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Pro1116Leu", "hgvsWellDefined": "ENSP00000443078.3:p.Pro1116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "C", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.3740C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Pro1247Leu", "hgvsWellDefined": "ENSP00000483595.2:p.Pro1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.3740C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.3740C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Pro1247Leu" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Pro1247Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 3692, "referenceAllele": "C", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*2872C>T" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*2872C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "T", "end": 3867, "referenceAllele": "C", "start": 3866 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.3503C>T" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Pro1168Leu", "hgvsWellDefined": "ENSP00000502150.1:p.Pro1168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "T", "end": 4026, "referenceAllele": "C", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.3662C>T" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Pro1221Leu", "hgvsWellDefined": "ENSP00000502660.1:p.Pro1221Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "T", "end": 3642, "referenceAllele": "C", "start": 3641 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*2822C>T" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*2822C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "T", "end": 4642, "referenceAllele": "C", "start": 4641 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.4642C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "T", "end": 3810, "referenceAllele": "C", "start": 3809 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.3446C>T" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Pro1149Leu", "hgvsWellDefined": "ENSP00000502060.1:p.Pro1149Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "T", "end": 3191, "referenceAllele": "C", "start": 3190 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.3191C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "T", "end": 3624, "referenceAllele": "C", "start": 3623 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.3624C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "T", "end": 3889, "referenceAllele": "C", "start": 3888 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.*135C>T" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:n.*135C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "C", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.5706C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "T", "end": 10364, "referenceAllele": "C", "start": 10363 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675546.1:n.10364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775348" }, { "coordinates": [ { "allele": "T", "end": 3846, "referenceAllele": "C", "start": 3845 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.3482C>T" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Pro1161Leu", "hgvsWellDefined": "ENSP00000501855.1:p.Pro1161Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "T", "end": 3760, "referenceAllele": "C", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.3760C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.3605C>T" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Pro1202Leu", "hgvsWellDefined": "ENSP00000502311.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "T", "end": 3590, "referenceAllele": "C", "start": 3589 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*2770C>T" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*2770C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "T", "end": 4382, "referenceAllele": "C", "start": 4381 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*3637C>T" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*3637C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.3605C>T" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Pro1202Leu", "hgvsWellDefined": "ENSP00000501761.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "T", "end": 4027, "referenceAllele": "C", "start": 4026 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.4027C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "T", "end": 3625, "referenceAllele": "C", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.3584C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Pro1195Leu", "hgvsWellDefined": "ENSP00000367203.4:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "T", "end": 3980, "referenceAllele": "C", "start": 3979 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.3533C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Pro1178Leu", "hgvsWellDefined": "ENSP00000372355.5:p.Pro1178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.2376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000433797.5:c.2511C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292713" }, { "coordinates": [ { "allele": "T", "end": 3824, "referenceAllele": "C", "start": 3823 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.3377C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Pro1126Leu", "hgvsWellDefined": "ENSP00000437405.2:p.Pro1126Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "T", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.3431C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Pro1144Leu", "hgvsWellDefined": "ENSP00000443078.2:p.Pro1144Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "T", "end": 4115, "referenceAllele": "C", "start": 4114 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.3668C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Pro1223Leu", "hgvsWellDefined": "ENSP00000483595.1:p.Pro1223Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "T", "end": 2595, "endIntronDirection": "+", "endIntronOffset": 11285, "referenceAllele": "C", "start": 2595, "startIntronDirection": "+", "startIntronOffset": 11284 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.2595+11285C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.2595+11285C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "@id": "http://reg.genome.network/allele/PA2826796587", "coordinates": [ { "allele": "T", "end": 4117, "referenceAllele": "C", "start": 4116 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.3740C>T", "LRG_616t1:c.3740C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Pro1247Leu", "hgvsWellDefined": "NP_001278344.1:p.Pro1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "@id": "http://reg.genome.network/allele/PA2826797127", "coordinates": [ { "allele": "T", "end": 3982, "referenceAllele": "C", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.3605C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Pro1202Leu", "hgvsWellDefined": "NP_001278345.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797688", "coordinates": [ { "allele": "T", "end": 3826, "referenceAllele": "C", "start": 3825 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.3449C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Pro1150Leu", "hgvsWellDefined": "NP_001278346.1:p.Pro1150Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826798230", "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "C", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.3347C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Pro1116Leu", "hgvsWellDefined": "NP_001278347.1:p.Pro1116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA916017780", "coordinates": [ { "allele": "T", "end": 3705, "referenceAllele": "C", "start": 3704 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.2696C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Pro899Leu", "hgvsWellDefined": "NP_001278350.1:p.Pro899Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "@id": "http://reg.genome.network/allele/PA2829967250", "coordinates": [ { "allele": "T", "end": 3961, "referenceAllele": "C", "start": 3960 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.3584C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Pro1195Leu", "hgvsWellDefined": "NP_066963.2:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "T", "end": 3880, "referenceAllele": "C", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.3880C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "T", "end": 4015, "referenceAllele": "C", "start": 4014 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.3638C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Pro1213Leu", "hgvsWellDefined": "XP_005272713.1:p.Pro1213Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "T", "end": 3859, "referenceAllele": "C", "start": 3858 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.3482C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Pro1161Leu", "hgvsWellDefined": "XP_005272716.1:p.Pro1161Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "T", "end": 4174, "referenceAllele": "C", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.3797C>T" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Pro1266Leu", "hgvsWellDefined": "XP_011542259.1:p.Pro1266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "T", "end": 4117, "referenceAllele": "C", "start": 4116 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.3740C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Pro1247Leu", "hgvsWellDefined": "XP_011542260.1:p.Pro1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.3695C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Pro1232Leu", "hgvsWellDefined": "XP_011542261.1:p.Pro1232Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 4174, "referenceAllele": "C", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.3797C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Pro1266Leu", "hgvsWellDefined": "XP_011542262.1:p.Pro1266Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.3662C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Pro1221Leu", "hgvsWellDefined": "XP_011542263.1:p.Pro1221Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 4018, "referenceAllele": "C", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.3641C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Pro1214Leu", "hgvsWellDefined": "XP_011542264.1:p.Pro1214Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 3982, "referenceAllele": "C", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.3605C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Pro1202Leu", "hgvsWellDefined": "XP_011542265.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 3961, "referenceAllele": "C", "start": 3960 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.3584C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Pro1195Leu", "hgvsWellDefined": "XP_011542266.1:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.3560C>T" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Pro1187Leu", "hgvsWellDefined": "XP_011542267.1:p.Pro1187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 3916, "referenceAllele": "C", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.3539C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Pro1180Leu", "hgvsWellDefined": "XP_011542268.1:p.Pro1180Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 4018, "referenceAllele": "C", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.3641C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Pro1214Leu", "hgvsWellDefined": "XP_011542269.1:p.Pro1214Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 3883, "referenceAllele": "C", "start": 3882 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.3506C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Pro1169Leu", "hgvsWellDefined": "XP_011542270.1:p.Pro1169Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 3880, "referenceAllele": "C", "start": 3879 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.3503C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Pro1168Leu", "hgvsWellDefined": "XP_011542271.1:p.Pro1168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 3859, "referenceAllele": "C", "start": 3858 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.3482C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Pro1161Leu", "hgvsWellDefined": "XP_011542272.1:p.Pro1161Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.3560C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Pro1187Leu", "hgvsWellDefined": "XP_011542273.1:p.Pro1187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 3826, "referenceAllele": "C", "start": 3825 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.3449C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Pro1150Leu", "hgvsWellDefined": "XP_011542274.1:p.Pro1150Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "T", "end": 3883, "referenceAllele": "C", "start": 3882 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.3506C>T" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Pro1169Leu", "hgvsWellDefined": "XP_011542275.1:p.Pro1169Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "T", "end": 3961, "referenceAllele": "C", "start": 3960 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.3584C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Pro1195Leu", "hgvsWellDefined": "XP_011542276.1:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.2987C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Pro996Leu", "hgvsWellDefined": "XP_011542277.1:p.Pro996Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "C", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.*25C>T" ], "proteinEffect": { "hgvs": "XP_011542278.1:n.*25C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "T", "end": 4174, "referenceAllele": "C", "start": 4173 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.4174C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "T", "end": 4008, "referenceAllele": "C", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.3638C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Pro1213Leu", "hgvsWellDefined": "XP_005272713.1:p.Pro1213Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.3482C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Pro1161Leu", "hgvsWellDefined": "XP_005272716.1:p.Pro1161Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "T", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.3740C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Pro1247Leu", "hgvsWellDefined": "XP_011542260.1:p.Pro1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "T", "end": 3975, "referenceAllele": "C", "start": 3974 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.3605C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Pro1202Leu", "hgvsWellDefined": "XP_011542265.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "T", "end": 3954, "referenceAllele": "C", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.3584C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Pro1195Leu", "hgvsWellDefined": "XP_011542266.1:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "T", "end": 3873, "referenceAllele": "C", "start": 3872 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.3503C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Pro1168Leu", "hgvsWellDefined": "XP_011542271.1:p.Pro1168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "T", "end": 3852, "referenceAllele": "C", "start": 3851 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.3482C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Pro1161Leu", "hgvsWellDefined": "XP_011542272.1:p.Pro1161Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "T", "end": 3819, "referenceAllele": "C", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.3449C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Pro1150Leu", "hgvsWellDefined": "XP_011542274.1:p.Pro1150Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "T", "end": 3954, "referenceAllele": "C", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.3584C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Pro1195Leu", "hgvsWellDefined": "XP_011542276.1:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.2987C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Pro996Leu", "hgvsWellDefined": "XP_011542277.1:p.Pro996Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "T", "end": 3873, "referenceAllele": "C", "start": 3872 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.3503C>T" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Pro1168Leu", "hgvsWellDefined": "XP_016885272.1:p.Pro1168Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "T", "end": 3427, "referenceAllele": "C", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.2852C>T" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Pro951Leu", "hgvsWellDefined": "XP_016885273.1:p.Pro951Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "T", "end": 3400, "referenceAllele": "C", "start": 3399 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.2594C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Pro865Leu", "hgvsWellDefined": "XP_016885274.1:p.Pro865Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 4008, "referenceAllele": "C", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.3638C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Pro1213Leu", "hgvsWellDefined": "XP_024308206.1:p.Pro1213Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 3748, "referenceAllele": "C", "start": 3747 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.3215C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Pro1072Leu", "hgvsWellDefined": "XP_024308207.1:p.Pro1072Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.4110C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA2826796587", "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "C", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.3740C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Pro1247Leu", "hgvsWellDefined": "NP_001278344.1:p.Pro1247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.3740C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.3740C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Pro1247Leu" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Pro1247Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826797127", "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.3605C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Pro1202Leu", "hgvsWellDefined": "NP_001278345.1:p.Pro1202Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797688", "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "C", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.3449C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Pro1150Leu", "hgvsWellDefined": "NP_001278346.1:p.Pro1150Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826798230", "coordinates": [ { "allele": "T", "end": 3711, "referenceAllele": "C", "start": 3710 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.3347C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Pro1116Leu", "hgvsWellDefined": "NP_001278347.1:p.Pro1116Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA916017780", "coordinates": [ { "allele": "T", "end": 3692, "referenceAllele": "C", "start": 3691 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.2696C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Pro899Leu", "hgvsWellDefined": "NP_001278350.1:p.Pro899Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829967250", "coordinates": [ { "allele": "T", "end": 3948, "referenceAllele": "C", "start": 3947 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.3584C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Pro1195Leu", "hgvsWellDefined": "NP_066963.2:p.Pro1195Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 3867, "referenceAllele": "C", "start": 3866 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.3867C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }