{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390771780", "communityStandardTitle": [ "NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547440[alleleid]", "alleleId": 547440, "preferredName": "NM_000153.4(GALC):c.129C>A (p.Tyr43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557283", "RCV": [ "RCV000673403" ], "variationId": 557283 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88459380G>T?assembly=hg19", "id": "chr14:g.88459380G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.87993036G>T?assembly=hg38", "id": "chr14:g.87993036G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516816", "rs": 1057516816 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-87993036-G-T?dataset=gnomad_r4", "id": "14-87993036-G-T", "variant": "14:87993036 G / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87993036, "referenceAllele": "G", "start": 87993035 } ], "hgvs": [ "NC_000014.9:g.87993036G>T", "CM000676.2:g.87993036G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88459380, "referenceAllele": "G", "start": 88459379 } ], "hgvs": [ "NC_000014.8:g.88459380G>T", "CM000676.1:g.88459380G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87529133, "referenceAllele": "G", "start": 87529132 } ], "hgvs": [ "NC_000014.7:g.87529133G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 5528, "referenceAllele": "C", "start": 5527 } ], "hgvs": [ "NG_011853.2:g.5528C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002031" }, { "coordinates": [ { "allele": "A", "end": 5528, "referenceAllele": "C", "start": 5527 } ], "hgvs": [ "NG_011853.3:g.5528C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.7:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Tyr43_Arg685delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742114", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.129C>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.129C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Tyr43Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Tyr43Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.6:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Tyr43_Arg685delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250712" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "C", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393568.8:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000377198.4:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000377198.4:p.Tyr43_Arg662delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275696" }, { "coordinates": [ { "allele": "A", "end": 283, "endIntronDirection": "+", "endIntronOffset": 347, "referenceAllele": "C", "start": 283, "startIntronDirection": "+", "startIntronOffset": 346 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393569.6:c.117+347C>A" ], "proteinEffect": { "hgvs": "ENSP00000377199.2:n.117+347C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS275697" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000474294.6:n.119C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315838" }, { "coordinates": [ { "allele": "A", "end": 137, "referenceAllele": "C", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554372.5:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000451884.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000451884.1:p.Tyr43_Leu112delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS370589" }, { "coordinates": [ { "allele": "A", "end": 87, "referenceAllele": "C", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556879.5:c.87C>A" ], "proteinEffect": { "hgvs": "ENSP00000452208.1:p.Tyr29Ter", "hgvsWellDefined": "ENSP00000452208.1:p.Tyr29_Arg62delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAspTrpCysLeuLysValSerLeuLysGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372568" }, { "coordinates": [ { "allele": "A", "end": 135, "referenceAllele": "C", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000557316.5:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000452314.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000452314.1:p.Tyr43_Glu211delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysValPheGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372927" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000622264.4:c.119C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS405647" }, { "@id": "http://reg.genome.network/allele/PA645428286", "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.3:c.129C>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Tyr43Ter", "hgvsWellDefined": "NP_000144.2:p.Tyr43_Arg685delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006215" }, { "@id": "http://reg.genome.network/allele/PA916003875", "coordinates": [ { "allele": "A", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.1:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001188330.1:p.Tyr43_Arg662delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017332" }, { "coordinates": [ { "allele": "A", "end": 283, "endIntronDirection": "+", "endIntronOffset": 347, "referenceAllele": "C", "start": 283, "startIntronDirection": "+", "startIntronOffset": 346 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.1:c.117+347C>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:n.117+347C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS017333" }, { "@id": "http://reg.genome.network/allele/PA645428286", "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.129C>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Tyr43Ter", "hgvsWellDefined": "NP_000144.2:p.Tyr43_Arg685delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyAlaThrSerArgLeuLeuValAsnTyrProGluProTyrArgSerGlnIleLeuAspTyrLeuPheLysProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.129C>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.129C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Tyr43Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Tyr43Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916003875", "coordinates": [ { "allele": "A", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001188330.1:p.Tyr43_Arg662delinsValLeuAspAspSerAspGlyLeuGlyArgGluPheAspGlyIleGlyAlaValSerGlyGlyGlyProAsnPheGlyAlaSerLeuHisIleLeuLysValGluIleGlyGlyAspGlyGlnThrThrAspGlyThrGluProSerHisMetHisTyrAlaLeuAspGluAsnTyrPheArgGlyTyrGluTrpTrpLeuMetLysGluAlaLysLysArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "coordinates": [ { "allele": "A", "end": 283, "endIntronDirection": "+", "endIntronOffset": 347, "referenceAllele": "C", "start": 283, "startIntronDirection": "+", "startIntronOffset": 346 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.117+347C>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:n.117+347C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }