{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401359676", "communityStandardTitle": [ "NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2067288[alleleid]", "alleleId": 2067288, "preferredName": "NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2011911", "RCV": [ "RCV002838762" ], "variationId": 2011911 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78185904C>T?assembly=hg19", "id": "chr17:g.78185904C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80212105C>T?assembly=hg38", "id": "chr17:g.80212105C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1598742418", "rs": 1598742418 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80212105-C-T?dataset=gnomad_r4", "id": "17-80212105-C-T", "variant": "17:80212105 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 80212105, "referenceAllele": "C", "start": 80212104 } ], "hgvs": [ "NC_000017.11:g.80212105C>T", "CM000679.2:g.80212105C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 78185904, "referenceAllele": "C", "start": 78185903 } ], "hgvs": [ "NC_000017.10:g.78185904C>T", "CM000679.1:g.78185904C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75800499, "referenceAllele": "C", "start": 75800498 } ], "hgvs": [ "NC_000017.9:g.75800499C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 13296, "referenceAllele": "G", "start": 13295 } ], "hgvs": [ "NG_008229.1:g.13296G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000961" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2844, "endIntronDirection": "+", "endIntronOffset": 2847, "referenceAllele": "C", "start": 2844, "startIntronDirection": "+", "startIntronOffset": 2846 } ], "gene": "http://reg.genome.network/gene/GN016446", "geneNCBI_id": 79092, "geneSymbol": "CARD14", "hgvs": [ "ENST00000703570.1:n.2844+2847C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911808" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000326317.11:c.915G>A" ], "proteinEffect": { "hgvs": "ENSP00000314606.6:p.Trp305Ter", "hgvsWellDefined": "ENSP00000314606.6:p.Trp305_Leu502delinsGlyGlnValSerGluAlaTyrValSerLeuLeuAspLeuThrProThrIleLeuAspTrpPheSerIleProTyrProSerTyrAlaIlePheGlySerLysThrIleHisLeuThrGlyArgSerLeuLeuProAlaLeuGluAlaGluProLeuTrpAlaThrValPheGlySerGlnSerHisHisGluValThrMetSerTyrProMetArgSerValGlnHisArgHisPheArgLeuValHisAsnLeuAsnPheLysMetProPheProIleAspGlnAspPheTyrValSerProThrPheGlnAspLeuLeuAsnArgThrThrAlaGlyGlnProThrGlyTrpTyrLysAspLeuArgHisTyrTyrTyrArgAlaArgTrpGluLeuTyrAspArgSerArgAspProHisGluThrGlnAsnLeuAlaThrAspProArgPheAlaGlnLeuLeuGluMetLeuArgAspGlnLeuAlaLysTrpGlnTrpGluThrHisAspProTrpValCysAlaProAspGlyValLeuGluGluLysLeuSerProGlnCysGlnProLeuHisAsnGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746758", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326317.11:c.915G>A" }, "RefSeq": { "hgvs": "NM_000199.5:c.915G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000314606.6:p.Trp305Ter" }, "RefSeq": { "hgvs": "NP_000190.1:p.Trp305Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000326317.10:c.915G>A" ], "proteinEffect": { "hgvs": "ENSP00000314606.6:p.Trp305Ter", "hgvsWellDefined": "ENSP00000314606.6:p.Trp305_Leu502delinsGlyGlnValSerGluAlaTyrValSerLeuLeuAspLeuThrProThrIleLeuAspTrpPheSerIleProTyrProSerTyrAlaIlePheGlySerLysThrIleHisLeuThrGlyArgSerLeuLeuProAlaLeuGluAlaGluProLeuTrpAlaThrValPheGlySerGlnSerHisHisGluValThrMetSerTyrProMetArgSerValGlnHisArgHisPheArgLeuValHisAsnLeuAsnPheLysMetProPheProIleAspGlnAspPheTyrValSerProThrPheGlnAspLeuLeuAsnArgThrThrAlaGlyGlnProThrGlyTrpTyrLysAspLeuArgHisTyrTyrTyrArgAlaArgTrpGluLeuTyrAspArgSerArgAspProHisGluThrGlnAsnLeuAlaThrAspProArgPheAlaGlnLeuLeuGluMetLeuArgAspGlnLeuAlaLysTrpGlnTrpGluThrHisAspProTrpValCysAlaProAspGlyValLeuGluGluLysLeuSerProGlnCysGlnProLeuHisAsnGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258604" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000570923.1:c.*125G>A" ], "proteinEffect": { "hgvs": "ENSP00000458200.1:n.*125G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382294" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000572257.5:c.517G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS382848" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000573150.5:c.*125G>A" ], "proteinEffect": { "hgvs": "ENSP00000459280.1:n.*125G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS383195" }, { "coordinates": [ { "allele": "A", "end": 2739, "referenceAllele": "G", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000575282.5:n.2739G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384054" }, { "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "ENST00000576856.1:c.114G>A" ], "proteinEffect": { "hgvs": "ENSP00000460720.1:p.Trp38Ter", "hgvsWellDefined": "ENSP00000460720.1:p.Trp38_Ser67delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384625" }, { "@id": "http://reg.genome.network/allele/PA2825080904", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_000199.3:c.915G>A" ], "proteinEffect": { "hgvs": "NP_000190.1:p.Trp305Ter", "hgvsWellDefined": "NP_000190.1:p.Trp305_Leu502delinsGlyGlnValSerGluAlaTyrValSerLeuLeuAspLeuThrProThrIleLeuAspTrpPheSerIleProTyrProSerTyrAlaIlePheGlySerLysThrIleHisLeuThrGlyArgSerLeuLeuProAlaLeuGluAlaGluProLeuTrpAlaThrValPheGlySerGlnSerHisHisGluValThrMetSerTyrProMetArgSerValGlnHisArgHisPheArgLeuValHisAsnLeuAsnPheLysMetProPheProIleAspGlnAspPheTyrValSerProThrPheGlnAspLeuLeuAsnArgThrThrAlaGlyGlnProThrGlyTrpTyrLysAspLeuArgHisTyrTyrTyrArgAlaArgTrpGluLeuTyrAspArgSerArgAspProHisGluThrGlnAsnLeuAlaThrAspProArgPheAlaGlnLeuLeuGluMetLeuArgAspGlnLeuAlaLysTrpGlnTrpGluThrHisAspProTrpValCysAlaProAspGlyValLeuGluGluLysLeuSerProGlnCysGlnProLeuHisAsnGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006263" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_005257582.2:c.915G>A" ], "proteinEffect": { "hgvs": "XP_005257639.1:p.Trp305Ter", "hgvsWellDefined": "XP_005257639.1:p.Trp305_Cys362delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGlyThrGluAlaGlnArgAspAspValAlaValArgGlyValGlySerThrArgHisLeuProLeuLeuIleGlyLeuGluLysGlyAlaAlaGlnSerGlyValGlySerAlaLeuProArgAlaAlaProValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061761" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_005257583.3:c.915G>A" ], "proteinEffect": { "hgvs": "XP_005257640.1:p.Trp305Ter", "hgvsWellDefined": "XP_005257640.1:p.Trp305_Ile340delinsGlyGlnValSerGluAlaTyrValSerLeuLeuValThrArgLeuLeuLeuProThrValLysGlyThrValIleLeuValSerArgPheTrpArgGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061762" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_011525126.1:c.915G>A" ], "proteinEffect": { "hgvs": "XP_011523428.1:p.Trp305Ter", "hgvsWellDefined": "XP_011523428.1:p.Trp305_His336delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092245" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_011525127.1:c.915G>A" ], "proteinEffect": { "hgvs": "XP_011523429.1:p.Trp305Ter", "hgvsWellDefined": "XP_011523429.1:p.Trp305_Ser334delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092246" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_934532.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129841" }, { "@id": "http://reg.genome.network/allele/PA2825080904", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_000199.4:c.915G>A" ], "proteinEffect": { "hgvs": "NP_000190.1:p.Trp305Ter", "hgvsWellDefined": "NP_000190.1:p.Trp305_Leu502delinsGlyGlnValSerGluAlaTyrValSerLeuLeuAspLeuThrProThrIleLeuAspTrpPheSerIleProTyrProSerTyrAlaIlePheGlySerLysThrIleHisLeuThrGlyArgSerLeuLeuProAlaLeuGluAlaGluProLeuTrpAlaThrValPheGlySerGlnSerHisHisGluValThrMetSerTyrProMetArgSerValGlnHisArgHisPheArgLeuValHisAsnLeuAsnPheLysMetProPheProIleAspGlnAspPheTyrValSerProThrPheGlnAspLeuLeuAsnArgThrThrAlaGlyGlnProThrGlyTrpTyrLysAspLeuArgHisTyrTyrTyrArgAlaArgTrpGluLeuTyrAspArgSerArgAspProHisGluThrGlnAsnLeuAlaThrAspProArgPheAlaGlnLeuLeuGluMetLeuArgAspGlnLeuAlaLysTrpGlnTrpGluThrHisAspProTrpValCysAlaProAspGlyValLeuGluGluLysLeuSerProGlnCysGlnProLeuHisAsnGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510763" }, { "@id": "http://reg.genome.network/allele/PA2827690268", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_001352921.1:c.915G>A" ], "proteinEffect": { "hgvs": "NP_001339850.1:p.Trp305Ter", "hgvsWellDefined": "NP_001339850.1:p.Trp305_Cys362delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGlyThrGluAlaGlnArgAspAspValAlaValArgGlyValGlySerThrArgHisLeuProLeuLeuIleGlyLeuGluLysGlyAlaAlaGlnSerGlyValGlySerAlaLeuProArgAlaAlaProValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521307" }, { "@id": "http://reg.genome.network/allele/PA2580210356", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_001352922.1:c.915G>A" ], "proteinEffect": { "hgvs": "NP_001339851.1:p.Trp305Ter", "hgvsWellDefined": "NP_001339851.1:p.Trp305_Ser334delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521308" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NR_148201.1:n.896G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531040" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_005257583.4:c.915G>A" ], "proteinEffect": { "hgvs": "XP_005257640.1:p.Trp305Ter", "hgvsWellDefined": "XP_005257640.1:p.Trp305_Ile340delinsGlyGlnValSerGluAlaTyrValSerLeuLeuValThrArgLeuLeuLeuProThrValLysGlyThrValIleLeuValSerArgPheTrpArgGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534686" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XM_017024952.1:c.915G>A" ], "proteinEffect": { "hgvs": "XP_016880441.1:p.Trp305Ter", "hgvsWellDefined": "XP_016880441.1:p.Trp305_Trp335delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575389" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752585.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599268" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752586.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599269" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752587.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599270" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752588.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599271" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752589.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599272" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752590.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599273" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752591.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599274" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_001752592.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599275" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_002958057.1:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604184" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "XR_934532.2:n.935G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610718" }, { "@id": "http://reg.genome.network/allele/PA2825080904", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_000199.5:c.915G>A" ], "proteinEffect": { "hgvs": "NP_000190.1:p.Trp305Ter", "hgvsWellDefined": "NP_000190.1:p.Trp305_Leu502delinsGlyGlnValSerGluAlaTyrValSerLeuLeuAspLeuThrProThrIleLeuAspTrpPheSerIleProTyrProSerTyrAlaIlePheGlySerLysThrIleHisLeuThrGlyArgSerLeuLeuProAlaLeuGluAlaGluProLeuTrpAlaThrValPheGlySerGlnSerHisHisGluValThrMetSerTyrProMetArgSerValGlnHisArgHisPheArgLeuValHisAsnLeuAsnPheLysMetProPheProIleAspGlnAspPheTyrValSerProThrPheGlnAspLeuLeuAsnArgThrThrAlaGlyGlnProThrGlyTrpTyrLysAspLeuArgHisTyrTyrTyrArgAlaArgTrpGluLeuTyrAspArgSerArgAspProHisGluThrGlnAsnLeuAlaThrAspProArgPheAlaGlnLeuLeuGluMetLeuArgAspGlnLeuAlaLysTrpGlnTrpGluThrHisAspProTrpValCysAlaProAspGlyValLeuGluGluLysLeuSerProGlnCysGlnProLeuHisAsnGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326317.11:c.915G>A" }, "RefSeq": { "hgvs": "NM_000199.5:c.915G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000314606.6:p.Trp305Ter" }, "RefSeq": { "hgvs": "NP_000190.1:p.Trp305Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827690268", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_001352921.2:c.915G>A" ], "proteinEffect": { "hgvs": "NP_001339850.1:p.Trp305Ter", "hgvsWellDefined": "NP_001339850.1:p.Trp305_Cys362delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGlyThrGluAlaGlnArgAspAspValAlaValArgGlyValGlySerThrArgHisLeuProLeuLeuIleGlyLeuGluLysGlyAlaAlaGlnSerGlyValGlySerAlaLeuProArgAlaAlaProValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689496" }, { "@id": "http://reg.genome.network/allele/PA2580210356", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_001352922.2:c.915G>A" ], "proteinEffect": { "hgvs": "NP_001339851.1:p.Trp305Ter", "hgvsWellDefined": "NP_001339851.1:p.Trp305_Ser334delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689497" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NR_148201.2:n.829G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704706" }, { "@id": "http://reg.genome.network/allele/PA2827690268", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, "geneSymbol": "SGSH", "hgvs": [ "NM_001352921.3:c.915G>A" ], "proteinEffect": { "hgvs": "NP_001339850.1:p.Trp305Ter", "hgvsWellDefined": "NP_001339850.1:p.Trp305_Cys362delinsGlyGlnValSerGluAlaTyrValSerLeuLeuGlyThrGluAlaGlnArgAspAspValAlaValArgGlyValGlySerThrArgHisLeuProLeuLeuIleGlyLeuGluLysGlyAlaAlaGlnSerGlyValGlySerAlaLeuProArgAlaAlaProValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720201" } ], "type": "nucleotide" }