{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041733", "communityStandardTitle": [ "NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358302[alleleid]", "alleleId": 358302, "preferredName": "NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371169", "RCV": [ "RCV000409611" ], "variationId": 371169 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.72638576C>T?assembly=hg19", "id": "chr15:g.72638576C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.72346235C>T?assembly=hg38", "id": "chr15:g.72346235C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/762374961", "rs": 762374961 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-72346235-C-T?dataset=gnomad_r4", "id": "15-72346235-C-T", "variant": "15:72346235 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 72346235, "referenceAllele": "C", "start": 72346234 } ], "hgvs": [ "NC_000015.10:g.72346235C>T", "CM000677.2:g.72346235C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 72638576, "referenceAllele": "C", "start": 72638575 } ], "hgvs": [ "NC_000015.9:g.72638576C>T", "CM000677.1:g.72638576C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 70425630, "referenceAllele": "C", "start": 70425629 } ], "hgvs": [ "NC_000015.8:g.70425630C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 34945, "referenceAllele": "G", "start": 34944 } ], "hgvs": [ "NG_009017.1:g.34945G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001382" }, { "coordinates": [ { "allele": "A", "end": 34945, "referenceAllele": "G", "start": 34944 } ], "hgvs": [ "NG_009017.2:g.34945G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673515" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567027.6:c.*81G>A" ], "proteinEffect": { "hgvs": "ENSP00000457521.2:n.*81G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826127" }, { "coordinates": [ { "allele": "A", "end": 1505, "referenceAllele": "G", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682061.1:c.*1083G>A" ], "proteinEffect": { "hgvs": "ENSP00000508316.1:n.*1083G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827059" }, { "coordinates": [ { "allele": "A", "end": 964, "referenceAllele": "G", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682064.1:n.964G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827062" }, { "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682177.1:c.1464G>A" ], "proteinEffect": { "hgvs": "ENSP00000507409.1:n.1464G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827174" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682235.1:n.760G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827230" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682461.1:c.1527G>A" ], "proteinEffect": { "hgvs": "ENSP00000507308.1:n.1527G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827451" }, { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "G", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682653.1:n.1741G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827642" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682657.1:c.*574G>A" ], "proteinEffect": { "hgvs": "ENSP00000507753.1:n.*574G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827646" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "G", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682721.1:c.*1224G>A" ], "proteinEffect": { "hgvs": "ENSP00000507535.1:n.*1224G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827710" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000682843.1:c.*1062G>A" ], "proteinEffect": { "hgvs": "ENSP00000508173.1:n.*1062G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827831" }, { "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683003.1:c.*574G>A" ], "proteinEffect": { "hgvs": "ENSP00000507576.1:n.*574G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS827990" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683133.1:c.1605G>A" ], "proteinEffect": { "hgvs": "ENSP00000508108.1:n.1605G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828118" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "G", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683243.1:c.*574G>A" ], "proteinEffect": { "hgvs": "ENSP00000507042.1:n.*574G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828225" }, { "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "G", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683463.1:c.*226G>A" ], "proteinEffect": { "hgvs": "ENSP00000507986.1:n.*226G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828439" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683548.1:n.1195G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828521" }, { "coordinates": [ { "allele": "A", "end": 1693, "referenceAllele": "G", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683579.1:c.*1319G>A" ], "proteinEffect": { "hgvs": "ENSP00000506867.1:n.*1319G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828552" }, { "coordinates": [ { "allele": "A", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683587.1:n.1268G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828560" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "G", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683681.1:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000508110.1:p.Ter474=" }, "referenceSequence": "http://reg.genome.network/refseq/RS828652" }, { "coordinates": [ { "allele": "A", "end": 1518, "referenceAllele": "G", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683735.1:c.*1135G>A" ], "proteinEffect": { "hgvs": "ENSP00000508336.1:n.*1135G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828706" }, { "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "G", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683853.1:c.*226G>A" ], "proteinEffect": { "hgvs": "ENSP00000506834.1:n.*226G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828820" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "G", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683860.1:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000507179.1:p.Trp474Ter", "hgvsWellDefined": "ENSP00000507179.1:p.Trp474_Phe485delinsProGluArgGluGlnAlaValGlnArgAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828827" }, { "coordinates": [ { "allele": "A", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000683884.1:c.*64G>A" ], "proteinEffect": { "hgvs": "ENSP00000507004.1:n.*64G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828851" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "G", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684041.1:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000508382.1:p.Trp474Ter", "hgvsWellDefined": "ENSP00000508382.1:p.Trp474Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829002" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684125.1:c.*81G>A" ], "proteinEffect": { "hgvs": "ENSP00000507320.1:n.*81G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829083" }, { "coordinates": [ { "allele": "A", "end": 3186, "referenceAllele": "G", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684203.1:n.3186G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829160" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684231.1:c.*831G>A" ], "proteinEffect": { "hgvs": "ENSP00000507748.1:n.*831G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829188" }, { "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684263.1:c.*361G>A" ], "proteinEffect": { "hgvs": "ENSP00000508369.1:n.*361G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829220" }, { "coordinates": [ { "allele": "A", "end": 1869, "referenceAllele": "G", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684305.1:c.1869G>A" ], "proteinEffect": { "hgvs": "ENSP00000506819.1:n.1869G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829261" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684415.1:c.*288G>A" ], "proteinEffect": { "hgvs": "ENSP00000507227.1:n.*288G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829370" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "G", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684520.1:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000506826.1:p.Trp474Ter", "hgvsWellDefined": "ENSP00000506826.1:p.Trp474Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829473" }, { "coordinates": [ { "allele": "A", "end": 1371, "referenceAllele": "G", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684602.1:c.*1087G>A" ], "proteinEffect": { "hgvs": "ENSP00000507996.1:n.*1087G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829554" }, { "coordinates": [ { "allele": "A", "end": 1752, "referenceAllele": "G", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000684667.1:c.1752G>A" ], "proteinEffect": { "hgvs": "ENSP00000507003.1:n.1752G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829618" }, { "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.10:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000268097.6:p.Trp474Ter", "hgvsWellDefined": "ENSP00000268097.6:p.Trp474_Thr529delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.1421G>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.1421G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Trp474Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Trp474Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1925, "referenceAllele": "G", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000268097.9:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000268097.5:p.Trp474Ter", "hgvsWellDefined": "ENSP00000268097.5:p.Trp474_Thr529delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252048" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "G", "start": 511 } ], "hgvs": [ "ENST00000379915.4:c.503G>A" ], "proteinEffect": { "hgvs": "ENSP00000478716.1:p.Trp168Ter", "hgvsWellDefined": "ENSP00000478716.1:p.Trp168_Val227delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgLeuGlnGlyArgArgMetCysLeuArgLeuArgGlyLysLysValValLysAspThrGluAspArgAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272694" }, { "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000563762.5:c.916G>A" ], "proteinEffect": { "hgvs": "ENSP00000456346.1:n.916G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS377635" }, { "coordinates": [ { "allele": "A", "end": 1475, "referenceAllele": "G", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566304.5:c.1454G>A" ], "proteinEffect": { "hgvs": "ENSP00000455114.1:p.Trp485Ter", "hgvsWellDefined": "ENSP00000455114.1:p.Trp485_Thr540delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379341" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "G", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000566672.5:c.*831G>A" ], "proteinEffect": { "hgvs": "ENSP00000457037.1:n.*831G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS379607" }, { "coordinates": [ { "allele": "A", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567027.5:c.1036G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379842" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567159.5:c.1421G>A" ], "proteinEffect": { "hgvs": "ENSP00000456489.1:p.Trp474Ter", "hgvsWellDefined": "ENSP00000456489.1:p.Trp474_Arg509delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379928" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000567411.5:c.*942G>A" ], "proteinEffect": { "hgvs": "ENSP00000455545.1:n.*942G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380095" }, { "coordinates": [ { "allele": "A", "end": 6641, "referenceAllele": "G", "start": 6640 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000568777.5:n.6641G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381014" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "ENST00000569410.5:c.*226G>A" ], "proteinEffect": { "hgvs": "ENSP00000457125.1:n.*226G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS381456" }, { "@id": "http://reg.genome.network/allele/PA645468469", "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.4:c.1421G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp474Ter", "hgvsWellDefined": "NP_000511.2:p.Trp474_Thr529delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006577" }, { "@id": "http://reg.genome.network/allele/PA645468469", "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.5:c.1421G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp474Ter", "hgvsWellDefined": "NP_000511.2:p.Trp474_Thr529delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510809" }, { "@id": "http://reg.genome.network/allele/PA916022768", "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "G", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.1:c.1454G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp485Ter", "hgvsWellDefined": "NP_001305754.1:p.Trp485_Thr540delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513060" }, { "coordinates": [ { "allele": "A", "end": 1665, "referenceAllele": "G", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.1:n.1665G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527809" }, { "@id": "http://reg.genome.network/allele/PA645468469", "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.6:c.1421G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp474Ter", "hgvsWellDefined": "NP_000511.2:p.Trp474_Thr529delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674877", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.1421G>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.1421G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Trp474Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Trp474Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916022768", "coordinates": [ { "allele": "A", "end": 1496, "referenceAllele": "G", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.2:c.1454G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp485Ter", "hgvsWellDefined": "NP_001305754.1:p.Trp485_Thr540delinsProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684622" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.2:n.1206G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703516" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.3:n.1206G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730887" } ], "type": "nucleotide" }