{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346979", "communityStandardTitle": [ "NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=206621[alleleid]", "alleleId": 206621, "preferredName": "NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210018", "RCV": [ "RCV000191963", "RCV002247619", "RCV002354538", "RCV003313053" ], "variationId": 210018 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-744576-G-C", "id": "20-744576-G-C", "variant": "20:744576 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.744576G>C?assembly=hg19", "id": "chr20:g.744576G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.763932G>C?assembly=hg38", "id": "chr20:g.763932G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/778363575", "rs": 778363575 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-744576-G-C?dataset=gnomad_r2_1", "id": "20-744576-G-C", "variant": "20:744576 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-763932-G-C?dataset=gnomad_r3", "id": "20-763932-G-C", "variant": "20:763932 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-763932-G-C?dataset=gnomad_r4", "id": "20-763932-G-C", "variant": "20:763932 G / C" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 763932, "referenceAllele": "G", "start": 763931 } ], "hgvs": [ "NC_000020.11:g.763932G>C", "CM000682.2:g.763932G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 744576, "referenceAllele": "G", "start": 744575 } ], "hgvs": [ "NC_000020.10:g.744576G>C", "CM000682.1:g.744576G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 692576, "referenceAllele": "G", "start": 692575 } ], "hgvs": [ "NC_000020.9:g.692576G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "G", "end": 9653, "referenceAllele": "C", "start": 9652 } ], "hgvs": [ "NG_027687.1:g.9653C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003910" }, { "coordinates": [ { "allele": "G", "end": 17054, "referenceAllele": "C", "start": 17053 } ], "hgvs": [ "NG_027687.2:g.17054C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706132" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.5:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Tyr213_Pro415delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752601" }, { "coordinates": [ { "allele": "G", "end": 618, "endIntronDirection": "+", "endIntronOffset": 1276, "referenceAllele": "C", "start": 618, "startIntronDirection": "+", "startIntronOffset": 1275 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.2:c.567+1276C>G" ], "proteinEffect": { "hgvs": "ENSP00000502741.1:n.567+1276C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS757099" }, { "coordinates": [ { "allele": "G", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000488495.3:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000494009.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000494009.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757594" }, { "coordinates": [ { "allele": "G", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000645534.1:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000494193.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000494193.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.639C>G" }, "RefSeq": { "hgvs": "NM_033409.4:c.639C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Tyr213Ter" }, "RefSeq": { "hgvs": "NP_212134.3:p.Tyr213Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000675066.1:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000501902.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000501902.1:p.Tyr213_Ser364delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgCysAlaLeuIleTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774938" }, { "coordinates": [ { "allele": "G", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000676154.1:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000501807.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000501807.1:p.Tyr213_Ser228del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775875" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000217254.11:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000217254.7:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000217254.7:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248079" }, { "coordinates": [ { "allele": "G", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000381944.4:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000371370.3:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000371370.3:p.Tyr213_Pro415delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValSerIleArgProValGlyLeuLeuProLeuArgThrProHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273564" }, { "coordinates": [ { "allele": "G", "end": 618, "endIntronDirection": "+", "endIntronOffset": 1276, "referenceAllele": "C", "start": 618, "startIntronDirection": "+", "startIntronOffset": 1275 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000473664.1:n.618+1276C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS315357" }, { "coordinates": [ { "allele": "G", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "ENST00000632431.1:c.639C>G" ], "proteinEffect": { "hgvs": "ENSP00000488723.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000488723.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407575" }, { "@id": "http://reg.genome.network/allele/PA346980", "coordinates": [ { "allele": "G", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.3:c.639C>G" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Tyr213Ter", "hgvsWellDefined": "NP_212134.3:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039726" }, { "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.3:c.639C>G" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Tyr213Ter", "hgvsWellDefined": "XP_005260712.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062867" }, { "coordinates": [ { "allele": "G", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_011529148.1:c.639C>G" ], "proteinEffect": { "hgvs": "XP_011527450.1:p.Tyr213Ter", "hgvsWellDefined": "XP_011527450.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096218" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_005260655.4:c.639C>G" ], "proteinEffect": { "hgvs": "XP_005260712.1:p.Tyr213Ter", "hgvsWellDefined": "XP_005260712.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535218" }, { "coordinates": [ { "allele": "G", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "XM_024451821.1:c.639C>G" ], "proteinEffect": { "hgvs": "XP_024307589.1:p.Tyr213Ter", "hgvsWellDefined": "XP_024307589.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585330" }, { "@id": "http://reg.genome.network/allele/PA346980", "coordinates": [ { "allele": "G", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_033409.4:c.639C>G" ], "proteinEffect": { "hgvs": "NP_212134.3:p.Tyr213Ter", "hgvsWellDefined": "NP_212134.3:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645534.1:c.639C>G" }, "RefSeq": { "hgvs": "NM_033409.4:c.639C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494193.1:p.Tyr213Ter" }, "RefSeq": { "hgvs": "NP_212134.3:p.Tyr213Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828374930", "coordinates": [ { "allele": "G", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370085.1:c.639C>G" ], "proteinEffect": { "hgvs": "NP_001357014.1:p.Tyr213Ter", "hgvsWellDefined": "NP_001357014.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692109" }, { "@id": "http://reg.genome.network/allele/PA2828375284", "coordinates": [ { "allele": "G", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN016187", "geneNCBI_id": 113278, "geneSymbol": "SLC52A3", "hgvs": [ "NM_001370086.1:c.639C>G" ], "proteinEffect": { "hgvs": "NP_001357015.1:p.Tyr213Ter", "hgvsWellDefined": "NP_001357015.1:p.Tyr213_Ala469delinsLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692110" } ], "type": "nucleotide" }