{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA407964646", "communityStandardTitle": [ "NM_033409.4(SLC52A3):c.50G>A (p.Trp17Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.746369C>T?assembly=hg19", "id": "chr20:g.746369C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.765725C>T?assembly=hg38", "id": "chr20:g.765725C>T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 765725, "referenceAllele": "C", "start": 765724 } ], "hgvs": [ "NC_000020.11:g.765725C>T", "CM000682.2:g.765725C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 746369, "referenceAllele": "C", "start": 746368 } ], "hgvs": [ "NC_000020.10:g.746369C>T", "CM000682.1:g.746369C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 694369, "referenceAllele": "C", "start": 694368 } ], "hgvs": [ "NC_000020.9:g.694369C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 7860, "referenceAllele": "G", "start": 7859 } ], "hgvs": [ "NG_027687.1:g.7860G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003910" }, { "coordinates": [ { "allele": "A", "end": 15261, "referenceAllele": "G", "start": 15260 } ], "hgvs": [ "NG_027687.2:g.15261G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706132" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.5:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Trp17Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Trp17_Pro415delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752601" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "G", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.2:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000502741.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000502741.1:p.Trp17_Asn336delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnValSerAlaValProGlyGlyProLeuArgAlaTrpAspLeuLeuTrpGlyLeuGlnHisGlyHisGlyGlyAspGluProLeuProProLeuAlaGlyProLeuGlyTrpGlySerProHisCysGlyLeuValGlyAlaPheGlnArgLeuProGlnLeuArgGlnGlyAspAlaGlyArgGlyProAlaArgProGlnProGlnArgProLeuValValArgGlyGlyGlyAlaAlaGlyLeuAlaAlaArgSerAlaAlaHisValProSerGlyGlnArgAlaAlaAlaLeuLeuValArgGlyLeuLeuGlnSerAlaLeuSerSerLeuGlyArgProProThrProProProSerLeuThrAspGlyThrGlyValGlnArgGlyGlnValThrGluGlnGlyAlaGlyThrGluArgGlnSerLeuSerAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757099" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000488495.3:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000494009.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000494009.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757594" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000645534.1:c.50G>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.50G>A" }, "RefSeq": { "hgvs": "NM_033409.4:c.50G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Trp17Ter" }, "RefSeq": { "hgvs": "NP_212134.3:p.Trp17Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000674666.1:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000502783.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000502783.1:p.Trp17_Thr45del" }, "referenceSequence": "http://reg.genome.network/refseq/RS774601" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000675066.1:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000501902.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000501902.1:p.Trp17_Ser364delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgCysAlaLeuIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774938" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000676154.1:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000501807.1:p.Trp17Ter", "hgvsWellDefined": "ENSP00000501807.1:p.Trp17_Ser228del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775875" }, { "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000217254.11:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000217254.7:p.Trp17Ter", "hgvsWellDefined": "ENSP00000217254.7:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248079" }, { "coordinates": [ { "allele": "A", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.4:c.50G>A" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Trp17Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Trp17_Pro415delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273564" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "G", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.1:n.101G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315357" }, { "coordinates": [ { "allele": "A", "end": 389, "referenceAllele": "G", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000632431.1:c.50G>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": 389, "referenceAllele": "G", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.3:c.50G>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": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.3:c.50G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_011529148.1:c.50G>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": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.4:c.50G>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": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_024451821.1:c.50G>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": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.4:c.50G>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.50G>A" }, "RefSeq": { "hgvs": "NM_033409.4:c.50G>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": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370085.1:c.50G>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": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370086.1:c.50G>A" ], "proteinEffect": { "hgvs": "NP_001357015.1:p.Trp17Ter", "hgvsWellDefined": "NP_001357015.1:p.Trp17_Ala469delinsValThrIleAsnGlyLeuTrpValGluLeuProLeuLeuValMetGluLeuProGluGlyTrpTyrLeuProSerTyrLeuThrValValIleGlnLeuAlaAsnIleGlyProLeuLeuValThrLeuLeuHisHisPheArgProSerCysLeuSerGluValProIleIlePheThrLeuLeuGlyValGlyThrValThrCysIleIlePheAlaPheLeuTrpAsnMetThrSerTrpValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692110" } ], "type": "nucleotide" }