{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274237", "communityStandardTitle": [ "NM_000153.4(GALC):c.599C>A (p.Ser200Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186921[alleleid]", "alleleId": 186921, "preferredName": "NM_000153.4(GALC):c.599C>A (p.Ser200Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189003", "RCV": [ "RCV000169386" ], "variationId": 189003 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88448571G>T?assembly=hg19", "id": "chr14:g.88448571G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.87982227G>T?assembly=hg38", "id": "chr14:g.87982227G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204618", "rs": 786204618 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-87982227-G-T?dataset=gnomad_r4", "id": "14-87982227-G-T", "variant": "14:87982227 G / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87982227, "referenceAllele": "G", "start": 87982226 } ], "hgvs": [ "NC_000014.9:g.87982227G>T", "CM000676.2:g.87982227G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88448571, "referenceAllele": "G", "start": 88448570 } ], "hgvs": [ "NC_000014.8:g.88448571G>T", "CM000676.1:g.88448571G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87518324, "referenceAllele": "G", "start": 87518323 } ], "hgvs": [ "NC_000014.7:g.87518324G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 16337, "referenceAllele": "C", "start": 16336 } ], "hgvs": [ "NG_011853.2:g.16337C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002031" }, { "coordinates": [ { "allele": "A", "end": 16337, "referenceAllele": "C", "start": 16336 } ], "hgvs": [ "NG_011853.3:g.16337C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.7:c.599C>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Ser200Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Ser200_Arg685delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742114", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.599C>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.599C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Ser200Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Ser200Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.6:c.599C>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Ser200Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Ser200_Arg685delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250712" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393568.8:c.530C>A" ], "proteinEffect": { "hgvs": "ENSP00000377198.4:p.Ser177Ter", "hgvsWellDefined": "ENSP00000377198.4:p.Ser177_Arg662delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275696" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393569.6:c.521C>A" ], "proteinEffect": { "hgvs": "ENSP00000377199.2:p.Ser174Ter", "hgvsWellDefined": "ENSP00000377199.2:p.Ser174_Arg659delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275697" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000474294.6:n.589C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315838" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "C", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000544807.6:c.431C>A" ], "proteinEffect": { "hgvs": "ENSP00000437513.2:p.Ser144Ter", "hgvsWellDefined": "ENSP00000437513.2:p.Ser144_Thr589delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysValAlaGlyArgArgLysLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364761" }, { "coordinates": [ { "allele": "A", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554372.5:c.*348C>A" ], "proteinEffect": { "hgvs": "ENSP00000451884.1:n.*348C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370589" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554916.5:n.478C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS371008" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556261.5:n.300C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS372083" }, { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000557316.5:c.599C>A" ], "proteinEffect": { "hgvs": "ENSP00000452314.1:p.Ser200Ter", "hgvsWellDefined": "ENSP00000452314.1:p.Ser200_Glu211delinsTyrAsnAlaAsnTyrIleLysValPheGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372927" }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000622264.4:c.589C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS405647" }, { "@id": "http://reg.genome.network/allele/PA274238", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.3:c.599C>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Ser200Ter", "hgvsWellDefined": "NP_000144.2:p.Ser200_Arg685delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006215" }, { "@id": "http://reg.genome.network/allele/PA2826253831", "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "C", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.1:c.530C>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Ser177Ter", "hgvsWellDefined": "NP_001188330.1:p.Ser177_Arg662delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017332" }, { "@id": "http://reg.genome.network/allele/PA2826254436", "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.1:c.521C>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Ser174Ter", "hgvsWellDefined": "NP_001188331.1:p.Ser174_Arg659delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017333" }, { "coordinates": [ { "allele": "A", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.1:c.431C>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Ser144Ter", "hgvsWellDefined": "XP_011534920.1:p.Ser144_Arg629delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103603" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.2:c.431C>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Ser144Ter", "hgvsWellDefined": "XP_011534920.1:p.Ser144_Arg629delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552566" }, { "@id": "http://reg.genome.network/allele/PA274238", "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.599C>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Ser200Ter", "hgvsWellDefined": "NP_000144.2:p.Ser200_Arg685delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.599C>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.599C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Ser200Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Ser200Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253831", "coordinates": [ { "allele": "A", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.530C>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Ser177Ter", "hgvsWellDefined": "NP_001188330.1:p.Ser177_Arg662delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "@id": "http://reg.genome.network/allele/PA2826254436", "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.521C>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Ser174Ter", "hgvsWellDefined": "NP_001188331.1:p.Ser174_Arg659delinsTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }