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}, "referenceSequence": "http://reg.genome.network/refseq/RS043383" }, { "@id": "http://reg.genome.network/allele/PA2830368756", "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.4:c.177C>A" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Tyr59Ter", "hgvsWellDefined": "NP_808592.2:p.Tyr59_Trp395delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValLeuLysValIleValAsnSerLeuLysAsnMetIleAsnThrPheValProSerGlyLysIleMetGlnValValAspGluLysLeuProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043384" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.2:c.111C>A" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Tyr37Ter", "hgvsWellDefined": "XP_005273561.1:p.Tyr37_Trp373delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValLeuLysValIleValAsnSerLeuLysAsnMetIleAsnThrPheValProSerGlyLysIleMetGlnValValAspGluLysLeuProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067626" }, { "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.1:c.-19C>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-19C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523526" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.3:c.111C>A" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Tyr37Ter", "hgvsWellDefined": "XP_005273561.1:p.Tyr37_Trp373delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValLeuLysValIleValAsnSerLeuLysAsnMetIleAsnThrPheValProSerGlyLysIleMetGlnValValAspGluLysLeuProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537465" }, { "@id": "http://reg.genome.network/allele/PA2830368756", "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.5:c.177C>A" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Tyr59Ter", "hgvsWellDefined": "NP_808592.2:p.Tyr59_Trp395delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValLeuLysValIleValAsnSerLeuLysAsnMetIleAsnThrPheValProSerGlyLysIleMetGlnValValAspGluLysLeuProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637790.2:c.177C>A" }, "RefSeq": { "hgvs": "NM_177924.5:c.177C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490272.1:p.Tyr59Ter" }, "RefSeq": { "hgvs": "NP_808592.2:p.Tyr59Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915966996", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001127505.3:c.246C>A" ], "proteinEffect": { "hgvs": "NP_001120977.1:p.Tyr82Ter", "hgvsWellDefined": "NP_001120977.1:p.Tyr82_Trp389delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676901" }, { "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.2:c.-19C>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-19C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690762" }, { "@id": "http://reg.genome.network/allele/PA2829524927", "coordinates": [ { "allele": "A", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.6:c.225C>A" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Tyr75Ter", "hgvsWellDefined": "NP_004306.3:p.Tyr75_Trp411delinsLysArgTrpHisGluLeuMetLeuAspLysAlaProValLeuLysValIleValAsnSerLeuLysAsnMetIleAsnThrPheValProSerGlyLysIleMetGlnValValAspGluLysLeuProGlyLeuLeuGlyAsnPheProGlyProPheGluGluGluMetLysGlyIleAlaAlaValThrAspIleProLeuGlyGluIleIleSerPheAsnIlePheTyrGluLeuPheThrIleCysThrSerIleValAlaGluAspLysLysGlyHisLeuIleHisGlyArgAsnMetAspPheGlyValPheLeuGlyTrpAsnIleAsnAsnAspThrTrpValIleThrGluGlnLeuLysProLeuThrValAsnLeuAspPheGlnArgAsnAsnLysThrValPheLysAlaSerSerPheAlaGlyTyrValGlyMetLeuThrGlyPheLysProGlyLeuPheSerLeuThrLeuAsnGluArgPheSerIleAsnGlyGlyTyrLeuGlyIleLeuGluTrpIleLeuGlyLysLysAspValMetTrpIleGlyPheLeuThrArgThrValLeuGluAsnSerThrSerTyrGluGluAlaLysAsnLeuLeuThrLysThrLysIleLeuAlaProAlaTyrPheIleLeuGlyGlyAsnGlnSerGlyGluGlyCysValIleThrArgAspArgLysGluSerLeuAspValTyrGluLeuAspAlaLysGlnGlyArgTrpTyrValValGlnThrAsnTyrAspArgTrpLysHisProPhePheLeuAspAspArgArgThrProAlaLysMetCysLeuAsnArgThrSerGlnGluAsnIleSerPheGluThrMetTyrAspValLeuSerThrLysProValLeuAsnLysLeuThrValTyrThrThrLeuIleAspValThrLysGlyGlnPheGluThrTyrLeuArgAspCysProAspProCysIleGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696102" } ], "type": "nucleotide" }