{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041705", "communityStandardTitle": [ "NM_000153.4(GALC):c.415A>T (p.Lys139Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358267[alleleid]", "alleleId": 358267, "preferredName": "NM_000153.4(GALC):c.415A>T (p.Lys139Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370670", "RCV": [ "RCV000411282" ], "variationId": 370670 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88452860T>A?assembly=hg19", "id": "chr14:g.88452860T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.87986516T>A?assembly=hg38", "id": "chr14:g.87986516T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516673", "rs": 1057516673 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 87986516, "referenceAllele": "T", "start": 87986515 } ], "hgvs": [ "NC_000014.9:g.87986516T>A", "CM000676.2:g.87986516T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 88452860, "referenceAllele": "T", "start": 88452859 } ], "hgvs": [ "NC_000014.8:g.88452860T>A", "CM000676.1:g.88452860T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 87522613, "referenceAllele": "T", "start": 87522612 } ], "hgvs": [ "NC_000014.7:g.87522613T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 12048, "referenceAllele": "A", "start": 12047 } ], "hgvs": [ "NG_011853.2:g.12048A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002031" }, { "coordinates": [ { "allele": "T", "end": 12048, "referenceAllele": "A", "start": 12047 } ], "hgvs": [ "NG_011853.3:g.12048A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.7:c.415A>T" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Lys139Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Lys139_Arg685delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742114", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.415A>T" }, "RefSeq": { "hgvs": "NM_000153.4:c.415A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Lys139Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Lys139Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.6:c.415A>T" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Lys139Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Lys139_Arg685delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250712" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "A", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393568.8:c.346A>T" ], "proteinEffect": { "hgvs": "ENSP00000377198.4:p.Lys116Ter", "hgvsWellDefined": "ENSP00000377198.4:p.Lys116_Arg662delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275696" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393569.6:c.337A>T" ], "proteinEffect": { "hgvs": "ENSP00000377199.2:p.Lys113Ter", "hgvsWellDefined": "ENSP00000377199.2:p.Lys113_Arg659delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275697" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "A", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000474294.6:n.405A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS315838" }, { "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "A", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000544807.6:c.247A>T" ], "proteinEffect": { "hgvs": "ENSP00000437513.2:p.Lys83Ter", "hgvsWellDefined": "ENSP00000437513.2:p.Lys83_Thr589delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysValAlaGlyArgArgLysLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364761" }, { "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "A", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554372.5:c.*164A>T" ], "proteinEffect": { "hgvs": "ENSP00000451884.1:n.*164A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS370589" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "A", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554916.5:n.294A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371008" }, { "coordinates": [ { "allele": "T", "end": 116, "referenceAllele": "A", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556261.5:n.116A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372083" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556879.5:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000452208.1:n.475A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372568" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "A", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000557316.5:c.415A>T" ], "proteinEffect": { "hgvs": "ENSP00000452314.1:p.Lys139Ter", "hgvsWellDefined": "ENSP00000452314.1:p.Lys139_Glu211delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysValPheGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372927" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "A", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000622264.4:c.405A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS405647" }, { "@id": "http://reg.genome.network/allele/PA645428422", "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.3:c.415A>T" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Lys139Ter", "hgvsWellDefined": "NP_000144.2:p.Lys139_Arg685delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006215" }, { "@id": "http://reg.genome.network/allele/PA2826253775", "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "A", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.1:c.346A>T" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Lys116Ter", "hgvsWellDefined": "NP_001188330.1:p.Lys116_Arg662delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017332" }, { "@id": "http://reg.genome.network/allele/PA2826254379", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.1:c.337A>T" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Lys113Ter", "hgvsWellDefined": "NP_001188331.1:p.Lys113_Arg659delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017333" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "A", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.1:c.247A>T" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Lys83Ter", "hgvsWellDefined": "XP_011534920.1:p.Lys83_Arg629delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103603" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "A", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.2:c.247A>T" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Lys83Ter", "hgvsWellDefined": "XP_011534920.1:p.Lys83_Arg629delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552566" }, { "@id": "http://reg.genome.network/allele/PA645428422", "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "A", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.415A>T" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Lys139Ter", "hgvsWellDefined": "NP_000144.2:p.Lys139_Arg685delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.415A>T" }, "RefSeq": { "hgvs": "NM_000153.4:c.415A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Lys139Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Lys139Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253775", "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "A", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.346A>T" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Lys116Ter", "hgvsWellDefined": "NP_001188330.1:p.Lys116_Arg662delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "@id": "http://reg.genome.network/allele/PA2826254379", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "A", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.337A>T" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Lys113Ter", "hgvsWellDefined": "NP_001188331.1:p.Lys113_Arg659delinsArgAsnProAsnIleThrLeuIleGlyLeuProTrpSerPheProGlyTrpLeuGlyLysGlyPheAspTrpProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }