{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8235166", "communityStandardTitle": [ "NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036347[alleleid]", "alleleId": 1036347, "preferredName": "NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048398", "RCV": [ "RCV001578503" ], "variationId": 1048398 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-88907400-C-T", "id": "16-88907400-C-T", "variant": "16:88907400 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88907400C>T?assembly=hg19", "id": "chr16:g.88907400C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88840992C>T?assembly=hg38", "id": "chr16:g.88840992C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/746862066", "rs": 746862066 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88907400-C-T?dataset=gnomad_r2_1", "id": "16-88907400-C-T", "variant": "16:88907400 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88840992-C-T?dataset=gnomad_r3", "id": "16-88840992-C-T", "variant": "16:88840992 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88840992-C-T?dataset=gnomad_r4", "id": "16-88840992-C-T", "variant": "16:88840992 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 88840992, "referenceAllele": "C", "start": 88840991 } ], "hgvs": [ "NC_000016.10:g.88840992C>T", "CM000678.2:g.88840992C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 88907400, "referenceAllele": "C", "start": 88907399 } ], "hgvs": [ "NC_000016.9:g.88907400C>T", "CM000678.1:g.88907400C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87434901, "referenceAllele": "C", "start": 87434900 } ], "hgvs": [ "NC_000016.8:g.87434901C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 20975, "referenceAllele": "G", "start": 20974 } ], "hgvs": [ "NG_008667.1:g.20975G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001157" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000268695.10:c.422G>A" ], "proteinEffect": { "hgvs": "ENSP00000268695.5:p.Trp141Ter", "hgvsWellDefined": "ENSP00000268695.5:p.Trp141_His522delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.422G>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.422G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Trp141Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Trp141Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000268695.9:c.422G>A" ], "proteinEffect": { "hgvs": "ENSP00000268695.5:p.Trp141Ter", "hgvsWellDefined": "ENSP00000268695.5:p.Trp141_His522delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252095" }, { "coordinates": [ { "allele": "A", "end": 3831, "referenceAllele": "G", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000562593.5:n.3831G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376891" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000562831.1:c.206G>A" ], "proteinEffect": { "hgvs": "ENSP00000455174.1:p.Trp69Ter", "hgvsWellDefined": "ENSP00000455174.1:p.Trp69Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS377035" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000565364.1:n.557G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS378708" }, { "coordinates": [ { "allele": "A", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567525.5:c.247G>A" ], "proteinEffect": { "hgvs": "ENSP00000454484.1:n.247G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380166" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567779.1:n.252G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS380342" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000568613.5:c.541G>A" ], "proteinEffect": { "hgvs": "ENSP00000457921.1:n.541G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380908" }, { "@id": "http://reg.genome.network/allele/PA2825204404", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.4:c.422G>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Trp141Ter", "hgvsWellDefined": "NP_000503.1:p.Trp141_His522delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006568" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.2:c.422G>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Trp141Ter", "hgvsWellDefined": "XP_005256358.1:p.Trp141_Pro575delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061259" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256302.1:c.440G>A" ], "proteinEffect": { "hgvs": "XP_005256359.1:p.Trp147Ter", "hgvsWellDefined": "XP_005256359.1:p.Trp147_His528delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061260" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.1:c.440G>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Trp147Ter", "hgvsWellDefined": "XP_011521284.1:p.Trp147_Pro581delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090123" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522984.1:c.440G>A" ], "proteinEffect": { "hgvs": "XP_011521286.1:p.Trp147Ter", "hgvsWellDefined": "XP_011521286.1:p.Trp147_Thr508delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090124" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.1:c.-134G>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515441" }, { "@id": "http://reg.genome.network/allele/PA2499249085", "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.1:c.440G>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Trp147Ter", "hgvsWellDefined": "NP_001310473.1:p.Trp147_His528delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515442" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.3:c.422G>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Trp141Ter", "hgvsWellDefined": "XP_005256358.1:p.Trp141_Pro575delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534454" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.2:c.440G>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Trp147Ter", "hgvsWellDefined": "XP_011521284.1:p.Trp147_Pro581delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546838" }, { "coordinates": [ { "allele": "A", "end": 2842, "referenceAllele": "G", "start": 2841 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023111.2:c.440G>A" ], "proteinEffect": { "hgvs": "XP_016878600.1:p.Trp147Ter", "hgvsWellDefined": "XP_016878600.1:p.Trp147_Leu511delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573926" }, { "coordinates": [ { "allele": "A", "end": 2842, "referenceAllele": "G", "start": 2841 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023112.2:c.440G>A" ], "proteinEffect": { "hgvs": "XP_016878601.1:p.Trp147Ter", "hgvsWellDefined": "XP_016878601.1:p.Trp147_Thr508delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573927" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023113.1:c.-134G>A" ], "proteinEffect": { "hgvs": "XP_016878602.1:n.-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2825204404", "coordinates": [ { "allele": "A", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.422G>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Trp141Ter", "hgvsWellDefined": "NP_000503.1:p.Trp141_His522delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.422G>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.422G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Trp141Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Trp141Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.-134G>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-134G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2499249085", "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.440G>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Trp147Ter", "hgvsWellDefined": "NP_001310473.1:p.Trp147_His528delinsHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }