{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10588805", "communityStandardTitle": [ "NM_024818.6(UBA5):c.181C>T (p.Arg61Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260380[alleleid]", "alleleId": 260380, "preferredName": "NM_024818.6(UBA5):c.181C>T (p.Arg61Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265748", "RCV": [ "RCV000256120", "RCV002521859" ], "variationId": 265748 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.132384686C>T?assembly=hg19", "id": "chr3:g.132384686C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.132665842C>T?assembly=hg38", "id": "chr3:g.132665842C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039756", "rs": 886039756 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 132665842, "referenceAllele": "C", "start": 132665841 } ], "hgvs": [ "NC_000003.12:g.132665842C>T", "CM000665.2:g.132665842C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 132384686, "referenceAllele": "C", "start": 132384685 } ], "hgvs": [ "NC_000003.11:g.132384686C>T", "CM000665.1:g.132384686C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 133867376, "referenceAllele": "C", "start": 133867375 } ], "hgvs": [ "NC_000003.10:g.133867376C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 16397, "referenceAllele": "C", "start": 16396 } ], "hgvs": [ "NG_052968.1:g.16397C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617279" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251638" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000356232.8:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000348565.4:p.Arg61Ter", "hgvsWellDefined": "ENSP00000348565.4:p.Arg61_Met404delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263695" }, { "coordinates": [ { "allele": "T", "end": 352, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 352, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000464068.5:c.28-2976C>T" ], "proteinEffect": { "hgvs": "ENSP00000420055.1:n.28-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS307974" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000464101.2:n.376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308002" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000468022.5:c.13C>T" ], "proteinEffect": { "hgvs": "ENSP00000418569.1:p.Arg5Ter", "hgvsWellDefined": "ENSP00000418569.1:p.Arg5Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS311027" }, { "coordinates": [ { "allele": "A", "end": 3995, "endIntronDirection": "+", "endIntronOffset": 16072, "referenceAllele": "G", "start": 3995, "startIntronDirection": "+", "startIntronOffset": 16071 } ], "gene": "http://reg.genome.network/gene/GN048351", "geneNCBI_id": 100532724, "geneSymbol": "NPHP3-ACAD11", "hgvs": [ "ENST00000471702.2:c.*1980+16072G>A" ], "proteinEffect": { "hgvs": "ENSP00000419763.1:n.*1980+16072G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS313838" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000473651.5:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000424984.1:p.Arg61Ter", "hgvsWellDefined": "ENSP00000424984.1:p.Arg61_His347delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpAlaArgArgPheCysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS315346" }, { "coordinates": [ { "allele": "T", "end": 104, "referenceAllele": "C", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000489361.1:c.13C>T" ], "proteinEffect": { "hgvs": "ENSP00000417905.1:p.Arg5Ter", "hgvsWellDefined": "ENSP00000417905.1:p.Arg5Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS327440" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000493720.6:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000417879.2:p.Arg61Ter", "hgvsWellDefined": "ENSP00000417879.2:p.Arg61_Lys377delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS330813" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000494238.6:c.13C>T" ], "proteinEffect": { "hgvs": "ENSP00000418807.2:p.Arg5Ter", "hgvsWellDefined": "ENSP00000418807.2:p.Arg5_Met348delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS331219" }, { "coordinates": [ { "allele": "T", "end": 303, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 303, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "ENST00000505777.5:c.162-2976C>T" ], "proteinEffect": { "hgvs": "ENSP00000427233.1:n.162-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS337475" }, { "coordinates": [ { "allele": "A", "end": 636, "endIntronDirection": "+", "endIntronOffset": 16072, "referenceAllele": "G", "start": 636, "startIntronDirection": "+", "startIntronOffset": 16071 } ], "gene": "http://reg.genome.network/gene/GN048351", "geneNCBI_id": 100532724, "geneSymbol": "NPHP3-ACAD11", "hgvs": [ "ENST00000632629.1:c.636+16072G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS407595" }, { "@id": "http://reg.genome.network/allele/PA645385235", "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_024818.3:c.181C>T" ], "proteinEffect": { "hgvs": "NP_079094.1:p.Arg61Ter", "hgvsWellDefined": "NP_079094.1:p.Arg61_Met404delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038043" }, { "@id": "http://reg.genome.network/allele/PA2830442254", "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_198329.2:c.13C>T" ], "proteinEffect": { "hgvs": "NP_938143.1:p.Arg5Ter", "hgvsWellDefined": "NP_938143.1:p.Arg5_Met348delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" 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170, "referenceAllele": "C", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "XM_011513184.1:c.13C>T" ], "proteinEffect": { "hgvs": "XP_011511486.1:p.Arg5Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS080438" }, { "coordinates": [ { "allele": "T", "end": 150, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 150, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "XM_011513185.1:c.28-2976C>T" ], "proteinEffect": { "hgvs": "XP_011511487.1:n.28-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080439" }, { "@id": "http://reg.genome.network/allele/PA2827041982", "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_001320210.1:c.13C>T" ], "proteinEffect": { "hgvs": "NP_001307139.1:p.Arg5Ter", "hgvsWellDefined": "NP_001307139.1:p.Arg5_Met348delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513496" }, { "coordinates": [ { "allele": "T", "end": 352, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 352, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_001321238.1:c.28-2976C>T" ], "proteinEffect": { "hgvs": "NP_001308167.1:n.28-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514149" }, { "coordinates": [ { "allele": "T", "end": 1202, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 1202, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_001321239.1:c.-39-2976C>T" ], "proteinEffect": { "hgvs": "NP_001308168.1:n.-39-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS514150" }, { "@id": "http://reg.genome.network/allele/PA645385235", "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "C", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_024818.4:c.181C>T" ], "proteinEffect": { "hgvs": "NP_079094.1:p.Arg61Ter", "hgvsWellDefined": "NP_079094.1:p.Arg61_Met404delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526183" }, { "@id": "http://reg.genome.network/allele/PA2830442254", "coordinates": [ { "allele": "T", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_198329.3:c.13C>T" ], "proteinEffect": { "hgvs": "NP_938143.1:p.Arg5Ter", "hgvsWellDefined": "NP_938143.1:p.Arg5_Met348delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526947" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "XR_001740272.1:n.783C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590483" }, { "@id": "http://reg.genome.network/allele/PA645385235", "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_024818.5:c.181C>T" ], "proteinEffect": { "hgvs": "NP_079094.1:p.Arg61Ter", "hgvsWellDefined": "NP_079094.1:p.Arg61_Met404delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698770" }, { "@id": "http://reg.genome.network/allele/PA2827041982", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_001320210.2:c.13C>T" ], "proteinEffect": { "hgvs": "NP_001307139.1:p.Arg5Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS717755" }, { "coordinates": [ { "allele": "T", "end": 720, "endIntronDirection": "-", "endIntronOffset": 2975, "referenceAllele": "C", "start": 720, "startIntronDirection": "-", "startIntronOffset": 2976 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_001321238.2:c.28-2976C>T" ], "proteinEffect": { "hgvs": "NP_001308167.1:n.28-2976C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS717922" }, { "@id": "http://reg.genome.network/allele/PA645385235", "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_024818.6:c.181C>T" ], "proteinEffect": { "hgvs": "NP_079094.1:p.Arg61Ter", "hgvsWellDefined": "NP_079094.1:p.Arg61_Met404delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356232.10:c.181C>T" }, "RefSeq": { "hgvs": "NM_024818.6:c.181C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348565.4:p.Arg61Ter" }, "RefSeq": { "hgvs": "NP_079094.1:p.Arg61Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830442254", "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN023230", "geneNCBI_id": 79876, "geneSymbol": "UBA5", "hgvs": [ "NM_198329.4:c.13C>T" ], "proteinEffect": { "hgvs": "NP_938143.1:p.Arg5Ter", "hgvsWellDefined": "NP_938143.1:p.Arg5_Met348delinsMetGlyIleValSerAspTyrGluLysIleArgThrPheAlaValAlaIleValGlyValGlyGlyValGlySerValThrAlaGluMetLeuThrArgCysGlyIleGlyLysLeuLeuLeuPheAspTyrAspLysValGluLeuAlaAsnMetAsnArgLeuPhePheGlnProHisGlnAlaGlyLeuSerLysValGlnAlaAlaGluHisThrLeuArgAsnIleAsnProAspValLeuPheGluValHisAsnTyrAsnIleThrThrValGluAsnPheGlnHisPheMetAspArgIleSerAsnGlyGlyLeuGluGluGlyLysProValAspLeuValLeuSerCysValAspAsnPheGluAlaArgMetThrIleAsnThrAlaCysAsnGluLeuGlyGlnThrTrpMetGluSerGlyValSerGluAsnAlaValSerGlyHisIleGlnLeuIleIleProGlyGluSerAlaCysPheAlaCysAlaProProLeuValValAlaAlaAsnIleAspGluLysThrLeuLysArgGluGlyValCysAlaAlaSerLeuProThrThrMetGlyValValAlaGlyIleLeuValGlnAsnValLeuLysPheLeuLeuAsnPheGlyThrValSerPheTyrLeuGlyTyrAsnAlaMetGlnAspPhePheProThrMetSerMetLysProAsnProGlnCysAspAspArgAsnCysArgLysGlnGlnGluGluTyrLysLysLysValAlaAlaLeuProLysGlnGluValIleGlnGluGluGluGluIleIleHisGluAspAsnGluTrpGlyIleGluLeuValSerGluValSerGluGluGluLeuLysAsnPheSerGlyProValProAspLeuProGluGlyIleThrValAlaTyrThrIleProLysLysGlnGluAspSerValThrGluLeuThrValGluAspSerGlyGluSerLeuGluAspLeuMetAlaLysMetLysAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729899" } ], "type": "nucleotide" }