{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA021519", "communityStandardTitle": [ "NM_000169.3(GLA):c.131G>A (p.Trp44Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25755[alleleid]", "alleleId": 25755, "preferredName": "NM_000169.3(GLA):c.131G>A (p.Trp44Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10716", "RCV": [ "RCV000011463" ], "variationId": 10716 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100662761C>T?assembly=hg19", "id": "chrX:g.100662761C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101407773C>T?assembly=hg38", "id": "chrX:g.101407773C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894829", "rs": 104894829 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101407773, "referenceAllele": "C", "start": 101407772 } ], "hgvs": [ "NC_000023.11:g.101407773C>T", "CM000685.2:g.101407773C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100662761, "referenceAllele": "C", "start": 100662760 } ], "hgvs": [ "NC_000023.10:g.100662761C>T", "CM000685.1:g.100662761C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100549417, "referenceAllele": "C", "start": 100549416 } ], "hgvs": [ "NC_000023.9:g.100549417C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 5191, "referenceAllele": "G", "start": 5190 } ], "hgvs": [ "NG_007119.1:g.5191G>A", "LRG_672:g.5191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000493" }, { "coordinates": [ { "allele": "T", "end": 4571, "referenceAllele": "C", "start": 4570 } ], "hgvs": [ "NG_016327.1:g.4571C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003097" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.7:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000501124.2:p.Trp44Ter", "hgvsWellDefined": 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"ENSP00000501044.2:p.Trp44_Leu222delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyGluSerArgLeuSerIleGlyHisArgGluArgSerIlePheIleProAlaPheProGlnTyrThrHisHisLeuCysThrThrSerSerGluGlnSerGlnGlnSerGlyArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914452" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000710365.1:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000518234.1:p.Trp44Ter", "hgvsWellDefined": "ENSP00000518234.1:p.Trp44_Leu454delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerTrpSerPheAlaLeuValAlaGlnAlaGlyValGlnCysHisAspLeuGlySerProGlnProProProProSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914527" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000218516.4:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000218516.4:p.Trp44Ter", "hgvsWellDefined": "ENSP00000218516.4:p.Trp44_Leu429delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740403", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.131G>A" }, "RefSeq": { "hgvs": "NM_000169.3:c.131G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Trp44Ter" }, "RefSeq": { "hgvs": "NP_000160.1:p.Trp44Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 50, "referenceAllele": "G", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000466414.2:n.50G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756873" }, { "coordinates": [ { "allele": "A", "end": 192, "referenceAllele": "G", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000468823.2:n.192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756949" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000479445.2:n.129G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757304" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000480513.6:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000497055.1:p.Trp44Ter", "hgvsWellDefined": "ENSP00000497055.1:p.Trp44_Cys199delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspAlaGlnLeuTyrArgAsnProThrValLeuGlnSerLeuAlaLysPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757332" }, { "coordinates": [ { "allele": "A", "end": 61, "referenceAllele": "G", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.6:c.61G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757527" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000649178.1:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000498186.1:p.Trp44Ter", "hgvsWellDefined": "ENSP00000498186.1:p.Trp44_Leu470delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerTrpSerPheAlaLeuValAlaGlnAlaGlyValGlnCysHisAspLeuGlySerProGlnProProProProArgPheLysGlnPheSerCysLeuIleLeuAlaSerSerTrpAsnTyrSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770391" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674127.1:c.59G>A" ], "proteinEffect": { "hgvs": "ENSP00000501044.1:p.Trp20Ter", "hgvsWellDefined": "ENSP00000501044.1:p.Trp20_Leu198delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyGluSerArgLeuSerIleGlyHisArgGluArgSerIlePheIleProAlaPheProGlnTyrThrHisHisLeuCysThrThrSerSerGluGlnSerGlnGlnSerGlyArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774146" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674142.1:n.218G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774159" }, { "coordinates": [ { "allele": "A", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674634.2:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000502629.2:p.Trp44Ter", "hgvsWellDefined": "ENSP00000502629.2:p.Trp44_Ser362delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnValAsnLysSerIleTyrPheLysMetAlaLeuTyrThrGlnTyrGlnLeuCysLeuGlyProLysSerIlePhePheProCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774573" }, { "coordinates": [ { "allele": "A", "end": 131, "referenceAllele": "G", "start": 130 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675592.1:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000502239.1:p.Trp44Ter", "hgvsWellDefined": "ENSP00000502239.1:p.Trp44_Leu363delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775388" }, { "coordinates": [ { "allele": "A", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675799.1:c.131G>A" ], "proteinEffect": { "hgvs": "ENSP00000502661.1:p.Trp44Ter", "hgvsWellDefined": "ENSP00000502661.1:p.Trp44_Cys199delinsLeuHisTrpGluArgPheMetCysAsnLeuAspCysGlnGluGluProAspSerCysIleSerGluLysLeuPheMetGluMetAlaGluLeuMetValSerGluGlyTrpLysAspAlaGlyTyrGluTyrLeuCysIleAspAspCysTrpMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspAlaGlnLeuTyrArgAsnProThrValLeuGlnSerLeuAlaLysPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775570" }, { "coordinates": [ { "allele": "A", "end": 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