{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA407964643", "communityStandardTitle": [ "NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2969788[alleleid]", "alleleId": 2969788, "preferredName": "NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2815117", "RCV": [ "RCV003599066" ], "variationId": 2815117 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.746368C>T?assembly=hg19", "id": "chr20:g.746368C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.765724C>T?assembly=hg38", "id": "chr20:g.765724C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2514853352", "rs": 2514853352 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 765724, "referenceAllele": "C", "start": 765723 } ], "hgvs": [ "NC_000020.11:g.765724C>T", "CM000682.2:g.765724C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 746368, "referenceAllele": "C", "start": 746367 } ], "hgvs": [ "NC_000020.10:g.746368C>T", "CM000682.1:g.746368C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 694368, "referenceAllele": "C", "start": 694367 } ], "hgvs": [ "NC_000020.9:g.694368C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 7861, "referenceAllele": "G", "start": 7860 } ], "hgvs": [ "NG_027687.1:g.7861G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003910" }, { "coordinates": [ { "allele": "A", "end": 15262, "referenceAllele": "G", "start": 15261 } ], "hgvs": [ "NG_027687.2:g.15262G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706132" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.5:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Trp17Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Trp17_Pro415delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752601" }, { "coordinates": [ { "allele": "A", "end": 102, "referenceAllele": "G", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.2:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000502741.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000502741.1:p.Trp17_Asn336delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnValSerAlaValProGlyGlyProLeuArgAlaTrpAspLeuLeuTrpGlyLeuGlnHisGlyHisGlyGlyAspGluProLeuProProLeuAlaGlyProLeuGlyTrpGlySerProHisCysGlyLeuValGlyAlaPheGlnArgLeuProGlnLeuArgGlnGlyAspAlaGlyArgGlyProAlaArgProGlnProGlnArgProLeuValValArgGlyGlyGlyAlaAlaGlyLeuAlaAlaArgSerAlaAlaHisValProSerGlyGlnArgAlaAlaAlaLeuLeuValArgGlyLeuLeuGlnSerAlaLeuSerSerLeuGlyArgProProThrProProProSerLeuThrAspGlyThrGlyValGlnArgGlyGlnValThrGluGlnGlyAlaGlyThrGluArgGlnSerLeuSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757099" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000488495.3:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000494009.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000494009.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757594" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000645534.1:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000494193.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000494193.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.51G>A" }, "RefSeq": { "hgvs": "NM_033409.4:c.51G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Trp17Ter" }, "RefSeq": { "hgvs": "NP_212134.3:p.Trp17Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000674666.1:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000502783.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000502783.1:p.Trp17_Thr45del" }, "referenceSequence": "http://reg.genome.network/refseq/RS774601" }, { "coordinates": [ { "allele": "A", "end": 230, "referenceAllele": "G", "start": 229 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000675066.1:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000501902.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000501902.1:p.Trp17_Ser364delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgCysAlaLeuIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774938" }, { "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "G", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000676154.1:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000501807.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000501807.1:p.Trp17_Ser228del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775875" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000217254.11:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000217254.7:p.Trp17Ter", "hgvsWellDefined": "ENSP00000217254.7:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248079" }, { "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.4:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Trp17Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Trp17_Pro415delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273564" }, { "coordinates": [ { "allele": "A", "end": 102, "referenceAllele": "G", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.1:n.102G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315357" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000632431.1:c.51G>A" ], "proteinEffect": { "hgvs": "ENSP00000488723.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000488723.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407575" }, { "@id": "http://reg.genome.network/allele/PA2741996929", "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.3:c.51G>A" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Trp17Ter", "hgvsWellDefined": "NP_212134.3:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039726" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.3:c.51G>A" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Trp17Ter", "hgvsWellDefined": "XP_005260712.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062867" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_011529148.1:c.51G>A" ], "proteinEffect": { "hgvs": "XP_011527450.1:p.Trp17Ter", "hgvsWellDefined": "XP_011527450.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096218" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.4:c.51G>A" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Trp17Ter", "hgvsWellDefined": "XP_005260712.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535218" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_024451821.1:c.51G>A" ], "proteinEffect": { "hgvs": "XP_024307589.1:p.Trp17Ter", "hgvsWellDefined": "XP_024307589.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585330" }, { "@id": "http://reg.genome.network/allele/PA2741996929", "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.4:c.51G>A" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Trp17Ter", "hgvsWellDefined": "NP_212134.3:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.51G>A" }, "RefSeq": { "hgvs": "NM_033409.4:c.51G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Trp17Ter" }, "RefSeq": { "hgvs": "NP_212134.3:p.Trp17Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828374793", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370085.1:c.51G>A" ], "proteinEffect": { "hgvs": "NP_001357014.1:p.Trp17Ter", "hgvsWellDefined": "NP_001357014.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692109" }, { "@id": "http://reg.genome.network/allele/PA2828375146", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370086.1:c.51G>A" ], "proteinEffect": { "hgvs": "NP_001357015.1:p.Trp17Ter", "hgvsWellDefined": "NP_001357015.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692110" } ], "type": "nucleotide" }