{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364713510", "communityStandardTitle": [ "NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781652[alleleid]", "alleleId": 1781652, "preferredName": "NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724125", "RCV": [ "RCV002306680" ], "variationId": 1724125 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.74331602G>C?assembly=hg19", "id": "chr6:g.74331602G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.73621879G>C?assembly=hg38", "id": "chr6:g.73621879G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1768168686", "rs": 1768168686 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 73621879, 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"NP_036566.1:p.Tyr301_His495delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668048", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355773.6:c.903C>G" }, "RefSeq": { "hgvs": "NM_012434.5:c.903C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348019.5:p.Tyr301Ter" }, "RefSeq": { "hgvs": "NP_036566.1:p.Tyr301Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828909425", "coordinates": [ { "allele": "G", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382629.1:c.672C>G" ], "proteinEffect": { "hgvs": "NP_001369558.1:p.Tyr224Ter", "hgvsWellDefined": "NP_001369558.1:p.Tyr224_His418delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722473" }, { "@id": "http://reg.genome.network/allele/PA2828909684", "coordinates": [ { "allele": "G", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382630.1:c.903C>G" ], "proteinEffect": { "hgvs": "NP_001369559.1:p.Tyr301Ter", "hgvsWellDefined": "NP_001369559.1:p.Tyr301_Lys470delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722474" }, { "@id": "http://reg.genome.network/allele/PA2580238464", "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382631.1:c.924C>G" ], "proteinEffect": { "hgvs": "NP_001369560.1:p.Tyr308Ter", "hgvsWellDefined": "NP_001369560.1:p.Tyr308_His502delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722475" }, { "@id": "http://reg.genome.network/allele/PA2828910093", "coordinates": [ { "allele": "G", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382632.1:c.816C>G" ], "proteinEffect": { 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"hgvs": [ "NM_001382633.1:c.903C>G" ], "proteinEffect": { "hgvs": "NP_001369562.1:p.Tyr301Ter", "hgvsWellDefined": "NP_001369562.1:p.Tyr301_Lys533delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722477" }, { "coordinates": [ { "allele": "G", "end": 925, "endIntronDirection": "-", "endIntronOffset": 6431, "referenceAllele": "C", "start": 925, "startIntronDirection": "-", "startIntronOffset": 6432 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382634.1:c.820-6432C>G" ], "proteinEffect": { "hgvs": "NP_001369563.1:n.820-6432C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS722478" }, { "@id": "http://reg.genome.network/allele/PA2828910831", "coordinates": [ { "allele": "G", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382635.1:c.900C>G" ], "proteinEffect": { "hgvs": "NP_001369564.1:p.Tyr300Ter", "hgvsWellDefined": "NP_001369564.1:p.Tyr300_His494delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722479" }, { "@id": "http://reg.genome.network/allele/PA2828911011", "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382636.1:c.585C>G" ], "proteinEffect": { "hgvs": "NP_001369565.1:p.Tyr195Ter", "hgvsWellDefined": "NP_001369565.1:p.Tyr195_His389delinsAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722480" } ], "type": "nucleotide" }