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"referenceSequence": "http://reg.genome.network/refseq/RS403494" }, { "@id": "http://reg.genome.network/allele/PA2826838584", "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_001294332.1:c.910C>T" ], "proteinEffect": { "hgvs": "NP_001281261.1:p.Arg304Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS024572" }, { "@id": "http://reg.genome.network/allele/PA645397932", "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_004168.3:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_004159.2:p.Arg352Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS029346" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XM_005248331.2:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_005248388.1:p.Arg352Ter", "hgvsWellDefined": 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"XP_011512375.1:p.Arg352_Val599delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysCysThrAlaArgGluGlnHisIleThrHisArgLysGlnLeuCysSerCysAspGlyGlyLeuSerThrArgLysGluArgThrIleGlyAlaArgSerSerLeuAsnLysSerGluSerHisTyrAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081299" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XR_925638.1:n.1187C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122437" }, { "@id": "http://reg.genome.network/allele/PA2827348133", "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_001330758.1:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_001317687.1:p.Arg352Ter", "hgvsWellDefined": "NP_001317687.1:p.Arg352_Tyr583delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValThrLeuGluTyrArgProValIleAspLysThrLeuAsnGluAlaAspCysAlaThrValProProAlaIleArgSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517079" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XM_011514072.2:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_011512374.1:p.Arg352Ter", "hgvsWellDefined": "XP_011512374.1:p.Arg352_Val680delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysSerMetGlnAsnHisAlaAlaValPheArgValGlySerValLeuGlnGluGlyCysGlyLysIleSerLysLeuTyrGlyAspLeuLysHisLeuLysThrPheAspArgGlyMetValTrpAsnThrAspLeuValGluThrLeuGluLeuGlnAsnLeuMetLeuCysAlaLeuGlnThrIleTyrGlyAlaGluAlaArgLysGluSerArgGlyAlaHisAlaArgGluAspTyrLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysCysThrAlaArgGluGlnHisIleThrHisArgLysGlnLeuCysSerCysAspGlyGlyLeuSerThrArgLysGluArgThrIleGlyAlaArgSerSerLeuAsnLysSerGluSerHisTyrAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543168" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XM_011514073.2:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_011512375.1:p.Arg352Ter", "hgvsWellDefined": "XP_011512375.1:p.Arg352_Val599delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysCysThrAlaArgGluGlnHisIleThrHisArgLysGlnLeuCysSerCysAspGlyGlyLeuSerThrArgLysGluArgThrIleGlyAlaArgSerSerLeuAsnLysSerGluSerHisTyrAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543169" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XM_017009685.2:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_016865174.1:p.Arg352Ter", "hgvsWellDefined": "XP_016865174.1:p.Arg352_Ser785delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysSerMetGlnAsnHisAlaAlaValPheArgValGlySerValLeuGlnGluGlyCysGlyLysIleSerLysLeuTyrGlyAspLeuLysHisLeuLysThrPheAspArgGlyMetValTrpAsnThrAspLeuValGluThrLeuGluLeuGlnAsnLeuMetLeuCysAlaLeuGlnThrIleTyrGlyAlaGluAlaArgLysGluSerArgGlyAlaHisAlaArgGluAspTyrLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValSerValGluLeuValLeuThrThrAlaGlnHisProHisGlyProAlaGlnAlaCysGlyLeuAlaLeuLeuMetValAsnGlyGluGluGlnAlaArgPheLysSerThrProAspArgPheGluAlaProLeuLysLysAlaLeuArgGlnGlnSerGlyPheGlyLeuGluThrGluSerSerSerCysArgTrpPheArgGlyAlaLeuArgLysGlyCysSerValValCysAlaArgTrpThrSerLeuGlyArgSerLysCysProArgProGlyGlyArgGlyGlyAspAspAspCysGlyProSerGluLysAlaSerValGlyTrpGlyHisThrAlaIleThrArgAsnGlnSerHisValLysGlyAlaGlnLysArgHisLeuProSerProProThrGlyTrpAlaAsnTrpLysArgLeuGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563922" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XM_024446143.1:c.910C>T" ], "proteinEffect": { "hgvs": "XP_024301911.1:p.Arg304Ter", "hgvsWellDefined": "XP_024301911.1:p.Arg304_Ser737delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysSerMetGlnAsnHisAlaAlaValPheArgValGlySerValLeuGlnGluGlyCysGlyLysIleSerLysLeuTyrGlyAspLeuLysHisLeuLysThrPheAspArgGlyMetValTrpAsnThrAspLeuValGluThrLeuGluLeuGlnAsnLeuMetLeuCysAlaLeuGlnThrIleTyrGlyAlaGluAlaArgLysGluSerArgGlyAlaHisAlaArgGluAspTyrLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValSerValGluLeuValLeuThrThrAlaGlnHisProHisGlyProAlaGlnAlaCysGlyLeuAlaLeuLeuMetValAsnGlyGluGluGlnAlaArgPheLysSerThrProAspArgPheGluAlaProLeuLysLysAlaLeuArgGlnGlnSerGlyPheGlyLeuGluThrGluSerSerSerCysArgTrpPheArgGlyAlaLeuArgLysGlyCysSerValValCysAlaArgTrpThrSerLeuGlyArgSerLysCysProArgProGlyGlyArgGlyGlyAspAspAspCysGlyProSerGluLysAlaSerValGlyTrpGlyHisThrAlaIleThrArgAsnGlnSerHisValLysGlyAlaGlnLysArgHisLeuProSerProProThrGlyTrpAlaAsnTrpLysArgLeuGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579818" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "XR_002956167.1:n.1101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602329" }, { "@id": "http://reg.genome.network/allele/PA645397932", "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_004168.4:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_004159.2:p.Arg352Ter", "hgvsWellDefined": "NP_004159.2:p.Arg352_Tyr664delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysSerMetGlnAsnHisAlaAlaValPheArgValGlySerValLeuGlnGluGlyCysGlyLysIleSerLysLeuTyrGlyAspLeuLysHisLeuLysThrPheAspArgGlyMetValTrpAsnThrAspLeuValGluThrLeuGluLeuGlnAsnLeuMetLeuCysAlaLeuGlnThrIleTyrGlyAlaGluAlaArgLysGluSerArgGlyAlaHisAlaArgGluAspTyrLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValThrLeuGluTyrArgProValIleAspLysThrLeuAsnGluAlaAspCysAlaThrValProProAlaIleArgSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264932.11:c.1054C>T" }, "RefSeq": { "hgvs": "NM_004168.4:c.1054C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264932.6:p.Arg352Ter" }, "RefSeq": { "hgvs": "NP_004159.2:p.Arg352Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826838584", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_001294332.2:c.910C>T" ], "proteinEffect": { "hgvs": "NP_001281261.1:p.Arg304Ter", "hgvsWellDefined": "NP_001281261.1:p.Arg304_Tyr616delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysSerMetGlnAsnHisAlaAlaValPheArgValGlySerValLeuGlnGluGlyCysGlyLysIleSerLysLeuTyrGlyAspLeuLysHisLeuLysThrPheAspArgGlyMetValTrpAsnThrAspLeuValGluThrLeuGluLeuGlnAsnLeuMetLeuCysAlaLeuGlnThrIleTyrGlyAlaGluAlaArgLysGluSerArgGlyAlaHisAlaArgGluAspTyrLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValThrLeuGluTyrArgProValIleAspLysThrLeuAsnGluAlaAspCysAlaThrValProProAlaIleArgSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716777" }, { "@id": "http://reg.genome.network/allele/PA2827348133", "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN010680", "geneNCBI_id": 6389, "geneSymbol": "SDHA", "hgvs": [ "NM_001330758.2:c.1054C>T" ], "proteinEffect": { "hgvs": "NP_001317687.1:p.Arg352Ter", "hgvsWellDefined": "NP_001317687.1:p.Arg352_Tyr583delinsGluGlyArgGlyCysGlyProGluLysAspHisValTyrLeuGlnLeuHisHisLeuProProGluGlnLeuAlaThrArgLeuProGlyIleSerGluThrAlaMetIlePheAlaGlyValAspValThrLysGluProIleProValLeuProThrValHisTyrAsnMetGlyGlyIleProThrAsnTyrLysGlyGlnValLeuArgHisValAsnGlyGlnAspGlnIleValProGlyLeuTyrAlaCysGlyGluAlaAlaCysAlaSerValHisGlyAlaAsnArgLeuGlyAlaAsnSerLeuLeuAspLeuValValPheGlyArgAlaCysAlaLeuSerIleGluGluSerCysArgProGlyAspLysValProProIleLysProAsnAlaGlyGluGluSerValMetAsnLeuAspLysLeuArgPheAlaAspGlySerIleArgThrSerGluLeuArgLeuSerMetGlnLysValArgIleAspGluTyrAspTyrSerLysProIleGlnGlyGlnGlnLysLysProPheGluGluHisTrpArgLysHisThrLeuSerTyrValAspValGlyThrGlyLysValThrLeuGluTyrArgProValIleAspLysThrLeuAsnGluAlaAspCysAlaThrValProProAlaIleArgSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718763" } ], "type": "nucleotide" }