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}, "referenceSequence": "http://reg.genome.network/refseq/RS755063", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000425225.2:c.27C>A" }, "RefSeq": { "hgvs": "NM_001101677.2:c.27C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000404438.1:p.Tyr9Ter" }, "RefSeq": { "hgvs": "NP_001095147.2:p.Tyr9Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1216, "endIntronDirection": "-", "endIntronOffset": 314, "referenceAllele": "C", "start": 1216, "startIntronDirection": "-", "startIntronOffset": 315 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "ENST00000674066.1:n.1217-315C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774090" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS288656" }, { "@id": "http://reg.genome.network/allele/PA357871", "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "NM_001012415.2:c.27C>A" ], "proteinEffect": { "hgvs": "NP_001012415.2:p.Tyr9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010963" }, { "coordinates": [ { "allele": "A", "end": 58, "referenceAllele": "C", "start": 57 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_005263403.2:c.27C>A" ], "proteinEffect": { "hgvs": "XP_005263460.1:p.Tyr9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063802" }, { "coordinates": [ { "allele": "A", "end": 1202, "endIntronDirection": "-", "endIntronOffset": 314, "referenceAllele": "C", "start": 1202, "startIntronDirection": "-", "startIntronOffset": 315 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_006717109.2:c.-139-315C>A" ], "proteinEffect": { "hgvs": "XP_006717172.1:n.-139-315C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071999" }, { "coordinates": [ { "allele": "A", "end": 1239, "referenceAllele": "C", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_011518698.1:c.27C>A" ], "proteinEffect": { "hgvs": "XP_011517000.1:p.Tyr9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS085872" }, { "coordinates": [ { "allele": "A", "end": 39, "referenceAllele": "C", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_005263403.3:c.27C>A" ], "proteinEffect": { "hgvs": "XP_005263460.1:p.Tyr9Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS535670" }, { "coordinates": [ { "allele": "A", "end": 180, "endIntronDirection": "-", "endIntronOffset": 314, "referenceAllele": "C", "start": 180, "startIntronDirection": "-", "startIntronOffset": 315 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_006717109.4:c.-139-315C>A" ], "proteinEffect": { "hgvs": "XP_006717172.1:n.-139-315C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS539340" }, { "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "C", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_011518698.3:c.27C>A" ], "proteinEffect": { "hgvs": "XP_011517000.1:p.Tyr9Ter", "hgvsWellDefined": "XP_011517000.1:p.Tyr9_Cys409delinsProGluValSerArgIleProThrValArgGlyCysAsnGlySerLeuSerGlyAlaLeuSerCysCysGluAspSerAlaArgGlySerGlyProProLysAlaProThrValAlaGluGlyProSerSerCysLeuArgArgAsnValIleSerGluArgGluArgArgLysArgMetSerLeuSerCysGluArgLeuArgAlaLeuLeuProGlnPheAspGlyArgArgGluAspMetAlaSerValLeuGluMetSerValGlnPheLeuArgLeuAlaSerAlaLeuGlyProSerGlnGluGlnHisAlaIleLeuAlaSerSerLysGluMetTrpHisSerLeuGlnGluAspValLeuGlnLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlyPheSerValTrpGluProValProGlySerGlyProThrGlyValLeuGlyLeuGlyProProGlySerLeuGluGlyArgGlyGlySerGlyProAlaTrpAlaProAlaGluSerSerProLeuAspValGlyGluProGlyPheLeuGlyAspProGluLeuGlySerGlnGluLeuGlnAspSerProLeuGluProTrpGlyLeuAspValAspCysAlaGlyLeuAlaLeuLysAspGluValGluSerIlePheProAspPhePheAlaCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545037" }, { "coordinates": [ { "allele": "A", "end": 560, "endIntronDirection": "-", "endIntronOffset": 314, "referenceAllele": "C", "start": 560, "startIntronDirection": "-", "startIntronOffset": 315 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "XM_024447552.1:c.-139-315C>A" ], "proteinEffect": { "hgvs": "XP_024303320.1:n.-139-315C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS581134" }, { "@id": "http://reg.genome.network/allele/PA2825310688", "coordinates": [ { "allele": "A", "end": 41, "referenceAllele": "C", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "NM_001012415.3:c.27C>A" ], "proteinEffect": { "hgvs": "NP_001012415.3:p.Tyr9Ter", "hgvsWellDefined": "NP_001012415.3:p.Tyr9_Ala328delinsProGluValSerArgIleProThrValArgGlyCysAsnGlySerLeuSerGlyAlaLeuSerCysCysGluAspSerAlaArgGlySerGlyProProLysAlaProThrValAlaGluGlyProSerSerCysLeuArgArgAsnValIleSerGluArgGluArgArgLysArgMetSerLeuSerCysGluArgLeuArgAlaLeuLeuProGlnPheAspGlyArgArgGluAspMetAlaSerValLeuGluMetSerValGlnPheLeuArgLeuAlaSerAlaLeuGlyProSerGlnGluGlnHisAlaIleLeuAlaSerSerLysGluMetTrpHisSerLeuGlnGluAspValLeuGlnLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlyGluTrpGlyProGlyPheArgAlaGlyProProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675420" }, { "@id": "http://reg.genome.network/allele/PA1139686182", "coordinates": [ { "allele": "A", "end": 41, "referenceAllele": "C", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN027845", "geneNCBI_id": 402381, "geneSymbol": "SOHLH1", "hgvs": [ "NM_001101677.2:c.27C>A" ], "proteinEffect": { "hgvs": "NP_001095147.2:p.Tyr9Ter", "hgvsWellDefined": "NP_001095147.2:p.Tyr9_Cys387delinsProGluValSerArgIleProThrValArgGlyCysAsnGlySerLeuSerGlyAlaLeuSerCysCysGluAspSerAlaArgGlySerGlyProProLysAlaProThrValAlaGluGlyProSerSerCysLeuArgArgAsnValIleSerGluArgGluArgArgLysArgMetSerLeuSerCysGluArgLeuArgAlaLeuLeuProGlnPheAspGlyArgArgGluAspMetAlaSerValLeuGluMetSerValGlnPheLeuArgLeuAlaSerAlaLeuGlyProSerGlnGluGlnHisAlaIleLeuAlaSerSerLysGluMetTrpHisSerLeuGlnGluAspValLeuGlnLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlySerLeuGluGlyArgGlyGlySerGlyProAlaTrpAlaProAlaGluSerSerProLeuAspValGlyGluProGlyPheLeuGlyAspProGluLeuGlySerGlnGluLeuGlnAspSerProLeuGluProTrpGlyLeuAspValAspCysAlaGlyLeuAlaLeuLysAspGluValGluSerIlePheProAspPhePheAlaCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676585", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000425225.2:c.27C>A" }, "RefSeq": { "hgvs": "NM_001101677.2:c.27C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000404438.1:p.Tyr9Ter" }, "RefSeq": { "hgvs": "NP_001095147.2:p.Tyr9Ter" } } } } ], "type": "nucleotide" }