{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393062381", "communityStandardTitle": [ "NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1362053[alleleid]", "alleleId": 1362053, "preferredName": "NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1440906", "RCV": [ "RCV001937008" ], "variationId": 1440906 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.72641489A>C?assembly=hg19", "id": "chr15:g.72641489A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.72349148A>C?assembly=hg38", "id": "chr15:g.72349148A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1567297439", "rs": 1567297439 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-72349148-A-C?dataset=gnomad_r3", "id": "15-72349148-A-C", "variant": "15:72349148 A / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-72349148-A-C?dataset=gnomad_r4", "id": "15-72349148-A-C", "variant": "15:72349148 A / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 72349148, "referenceAllele": "A", "start": 72349147 } ], "hgvs": [ "NC_000015.10:g.72349148A>C", "CM000677.2:g.72349148A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 72641489, "referenceAllele": "A", "start": 72641488 } ], "hgvs": [ "NC_000015.9:g.72641489A>C", "CM000677.1:g.72641489A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 70428543, "referenceAllele": "A", "start": 70428542 } ], "hgvs": [ "NC_000015.8:g.70428543A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 32032, "referenceAllele": "T", "start": 32031 } ], "hgvs": [ "NG_009017.1:g.32032T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001382" }, { "coordinates": [ { "allele": "G", "end": 32032, "referenceAllele": "T", "start": 32031 } ], "hgvs": [ "NG_009017.2:g.32032T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673515" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3263, "referenceAllele": "T", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000563908.2:n.3263T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS826099" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567027.6:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000457521.2:p.Leu306Ter", "hgvsWellDefined": "ENSP00000457521.2:p.Leu306_Pro360delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826127" }, { "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "T", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682061.1:c.*579T>G" ], "proteinEffect": { "hgvs": "ENSP00000508316.1:n.*579T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827059" }, { "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "T", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682177.1:c.960T>G" ], "proteinEffect": { "hgvs": "ENSP00000507409.1:n.960T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827174" }, { "coordinates": [ { "allele": "G", "end": 1023, "referenceAllele": "T", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682461.1:c.1023T>G" ], "proteinEffect": { "hgvs": "ENSP00000507308.1:n.1023T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827451" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682653.1:n.948T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS827642" }, { "coordinates": [ { "allele": "G", "end": 619, "referenceAllele": "T", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682657.1:c.*327T>G" ], "proteinEffect": { "hgvs": "ENSP00000507753.1:n.*327T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827646" }, { "coordinates": [ { "allele": "G", "end": 1026, "referenceAllele": "T", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682721.1:c.*720T>G" ], "proteinEffect": { "hgvs": "ENSP00000507535.1:n.*720T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827710" }, { "coordinates": [ { "allele": "G", "end": 1182, "referenceAllele": "T", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682843.1:c.*815T>G" ], "proteinEffect": { "hgvs": "ENSP00000508173.1:n.*815T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827831" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "T", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683003.1:c.*327T>G" ], "proteinEffect": { "hgvs": "ENSP00000507576.1:n.*327T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827990" }, { "coordinates": [ { "allele": "G", "end": 1101, "referenceAllele": "T", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683133.1:c.1101T>G" ], "proteinEffect": { "hgvs": "ENSP00000508108.1:n.1101T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828118" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683228.1:n.948T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828210" }, { "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "T", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683243.1:c.*327T>G" ], "proteinEffect": { "hgvs": "ENSP00000507042.1:n.*327T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828225" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683463.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000507986.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000507986.1:p.Leu306_Gln373delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828439" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683548.1:n.948T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828521" }, { "coordinates": [ { "allele": "G", "end": 1189, "referenceAllele": "T", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683579.1:c.*815T>G" ], "proteinEffect": { "hgvs": "ENSP00000506867.1:n.*815T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828552" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683587.1:n.948T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828560" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683681.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000508110.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000508110.1:p.Leu306_Leu473delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828652" }, { "coordinates": [ { "allele": "G", "end": 1198, "referenceAllele": "T", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683735.1:c.*815T>G" ], "proteinEffect": { "hgvs": "ENSP00000508336.1:n.*815T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS828706" }, { "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "T", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683742.1:n.748T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828713" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683853.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000506834.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000506834.1:p.Leu306_Gln373delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828820" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683860.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000507179.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000507179.1:p.Leu306_Phe485delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProGluArgGluGlnAlaValGlnArgAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828827" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683884.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000507004.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000507004.1:p.Leu306_Trp390delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysValProLeuSerArgArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828851" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684041.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000508382.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000508382.1:p.Leu306_Trp474delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829002" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684125.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000507320.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000507320.1:p.Leu306_Pro360delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829083" }, { "coordinates": [ { "allele": "G", "end": 2755, "referenceAllele": "T", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684203.1:n.2755T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829160" }, { "coordinates": [ { "allele": "G", "end": 779, "referenceAllele": "T", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684231.1:c.*327T>G" ], "proteinEffect": { "hgvs": "ENSP00000507748.1:n.*327T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829188" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684263.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000508369.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000508369.1:p.Leu306_Thr358delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829220" }, { "coordinates": [ { "allele": "G", "end": 1365, "referenceAllele": "T", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684305.1:c.1365T>G" ], "proteinEffect": { "hgvs": "ENSP00000506819.1:n.1365T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829261" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684415.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000507227.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000507227.1:p.Leu306_Thr358delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829370" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684520.1:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000506826.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000506826.1:p.Leu306_Trp474delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829473" }, { "coordinates": [ { "allele": "G", "end": 867, "referenceAllele": "T", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684602.1:c.*583T>G" ], "proteinEffect": { "hgvs": "ENSP00000507996.1:n.*583T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829554" }, { "coordinates": [ { "allele": "G", "end": 1248, "referenceAllele": "T", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684667.1:c.1248T>G" ], "proteinEffect": { "hgvs": "ENSP00000507003.1:n.1248T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829618" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "T", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.10:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000268097.6:p.Leu306Ter", "hgvsWellDefined": "ENSP00000268097.6:p.Leu306_Thr529delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.917T>G" }, "RefSeq": { "hgvs": "NM_000520.6:c.917T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Leu306Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Leu306Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1421, "referenceAllele": "T", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.9:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000268097.5:p.Leu306Ter", "hgvsWellDefined": "ENSP00000268097.5:p.Leu306_Thr529delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252048" }, { "coordinates": [ { "allele": "G", "end": 421, "endIntronDirection": "-", "endIntronOffset": 2822, "referenceAllele": "T", "start": 421, "startIntronDirection": "-", "startIntronOffset": 2823 } ], "hgvs": [ "ENST00000379915.4:c.413-2823T>G" ], "proteinEffect": { "hgvs": "ENSP00000478716.1:n.413-2823T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS272694" }, { "coordinates": [ { "allele": "G", "end": 738, "endIntronDirection": "-", "endIntronOffset": 1013, "referenceAllele": "T", "start": 738, "startIntronDirection": "-", "startIntronOffset": 1014 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000563762.5:c.739-1014T>G" ], "proteinEffect": { "hgvs": "ENSP00000456346.1:n.739-1014T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS377635" }, { "coordinates": [ { "allele": "G", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566304.5:c.950T>G" ], "proteinEffect": { "hgvs": "ENSP00000455114.1:p.Leu317Ter", "hgvsWellDefined": "ENSP00000455114.1:p.Leu317_Thr540delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379341" }, { "coordinates": [ { "allele": "G", "end": 790, "referenceAllele": "T", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566672.5:c.*327T>G" ], "proteinEffect": { "hgvs": "ENSP00000457037.1:n.*327T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS379607" }, { "coordinates": [ { "allele": "G", "end": 789, "referenceAllele": "T", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567027.5:c.789T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS379842" }, { "coordinates": [ { "allele": "G", "end": 938, "referenceAllele": "T", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567159.5:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000456489.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000456489.1:p.Leu306_Arg509delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379928" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "T", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567411.5:c.*438T>G" ], "proteinEffect": { "hgvs": "ENSP00000455545.1:n.*438T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS380095" }, { "coordinates": [ { "allele": "G", "end": 6321, "referenceAllele": "T", "start": 6320 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000568777.5:n.6321T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS381014" }, { "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "T", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569410.5:c.917T>G" ], "proteinEffect": { "hgvs": "ENSP00000457125.1:p.Leu306Ter", "hgvsWellDefined": "ENSP00000457125.1:p.Leu306_Gln373delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381456" }, { "@id": "http://reg.genome.network/allele/PA2825206995", "coordinates": [ { "allele": "G", "end": 1124, "referenceAllele": "T", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.4:c.917T>G" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu306Ter", "hgvsWellDefined": "NP_000511.2:p.Leu306_Thr529delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006577" }, { "@id": "http://reg.genome.network/allele/PA2825206995", "coordinates": [ { "allele": "G", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.5:c.917T>G" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu306Ter", "hgvsWellDefined": "NP_000511.2:p.Leu306_Thr529delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510809" }, { "@id": "http://reg.genome.network/allele/PA2573199301", "coordinates": [ { "allele": "G", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.1:c.950T>G" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Leu317Ter", "hgvsWellDefined": "NP_001305754.1:p.Leu317_Thr540delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513060" }, { "coordinates": [ { "allele": "G", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.1:n.1418T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS527809" }, { "@id": "http://reg.genome.network/allele/PA2825206995", "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "T", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.6:c.917T>G" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Leu306Ter", "hgvsWellDefined": "NP_000511.2:p.Leu306_Thr529delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674877", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.917T>G" }, "RefSeq": { "hgvs": "NM_000520.6:c.917T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Leu306Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Leu306Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573199301", "coordinates": [ { "allele": "G", "end": 992, "referenceAllele": "T", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.2:c.950T>G" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Leu317Ter", "hgvsWellDefined": "NP_001305754.1:p.Leu317_Thr540delinsGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684622" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "T", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.2:n.959T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS703516" }, { "coordinates": [ { "allele": "G", "end": 959, "referenceAllele": "T", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.3:n.959T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730887" } ], "type": "nucleotide" }