{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA360803754", "communityStandardTitle": [ "NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1060210[alleleid]", "alleleId": 1060210, "preferredName": "NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074182", "RCV": [ "RCV001387403" ], "variationId": 1074182 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131714155C>A?assembly=hg19", "id": "chr5:g.131714155C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132378463C>A?assembly=hg38", "id": "chr5:g.132378463C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2126775809", "rs": 2126775809 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 132378463, "referenceAllele": "C", "start": 132378462 } ], "hgvs": [ "NC_000005.10:g.132378463C>A", "CM000667.2:g.132378463C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131714155, "referenceAllele": "C", "start": 131714154 } ], "hgvs": [ "NC_000005.9:g.131714155C>A", "CM000667.1:g.131714155C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131742054, "referenceAllele": "C", "start": 131742053 } ], "hgvs": [ "NC_000005.8:g.131742054C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 13755, "referenceAllele": "C", "start": 13754 } ], "hgvs": [ "NG_008982.1:g.13755C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001353" }, { "coordinates": [ { "allele": "A", "end": 13760, "referenceAllele": "C", "start": 13759 } ], "hgvs": [ "NG_008982.2:g.13760C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616121" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.6:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000388838.2:p.Ser160Ter", "hgvsWellDefined": "ENSP00000388838.2:p.Ser160_Glu431delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824654" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.7:c.551C>A" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Ser184Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Ser184_Phe581delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824868" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000448810.6:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000401860.2:p.Ser160Ter", "hgvsWellDefined": "ENSP00000401860.2:p.Ser160_Gly353delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824998" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000686757.1:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000510721.1:p.Ser160Ter", "hgvsWellDefined": "ENSP00000510721.1:p.Ser160_Pro284delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830725" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000687740.1:n.613C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831241" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000689271.1:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000510797.1:p.Ser160Ter", "hgvsWellDefined": "ENSP00000510797.1:p.Ser160_Phe506delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832084" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000690900.1:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000510703.1:p.Ser160Ter", "hgvsWellDefined": "ENSP00000510703.1:p.Ser160_Pro268delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832936" }, { "coordinates": [ { "allele": "A", "end": 31, "referenceAllele": "C", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692355.1:c.31C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833679" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692413.1:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000509374.1:p.Ser160Ter", "hgvsWellDefined": "ENSP00000509374.1:p.Ser160_Phe551delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833710" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692825.1:c.547C>A" ], "proteinEffect": { "hgvs": "ENSP00000509447.1:n.547C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833907" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693308.1:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000509770.1:p.Ser160Ter", "hgvsWellDefined": "ENSP00000509770.1:p.Ser160_Phe573delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyGlyLeuThrGluIleGlyProCysThrAlaArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834175" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693763.1:n.613C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834419" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.8:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Ser160Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Ser160_Phe557delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741243", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.479C>A" }, "RefSeq": { "hgvs": "NM_003060.4:c.479C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Ser160Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Ser160Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.7:c.479C>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Ser160Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Ser160_Phe557delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249376" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.5:c.248C>A" ], "proteinEffect": { "hgvs": "ENSP00000388838.1:p.Ser83Ter", "hgvsWellDefined": "ENSP00000388838.1:p.Ser83_Glu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS284222" }, { "coordinates": [ { "allele": "A", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.6:c.551C>A" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Ser184Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Ser184_Phe581delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS293343" }, { "coordinates": [ { "allele": "A", "end": 466, "endIntronDirection": "-", "endIntronOffset": 6864, "referenceAllele": "C", "start": 466, "startIntronDirection": "-", "startIntronOffset": 6865 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000437841.6:c.394-6865C>A" ], "proteinEffect": { "hgvs": "ENSP00000400553.1:n.394-6865C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS294648" }, { "coordinates": [ { "allele": "A", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000461013.5:n.2236C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305630" }, { "@id": "http://reg.genome.network/allele/PA2499247535", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.1:c.551C>A" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Ser184Ter", "hgvsWellDefined": "NP_001295051.1:p.Ser184_Phe581delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026154" }, { "@id": "http://reg.genome.network/allele/PA2829418923", "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "C", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.3:c.479C>A" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Ser160Ter", "hgvsWellDefined": "NP_003051.1:p.Ser160_Phe557delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028339" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.1:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117842" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.1:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141868" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.1:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS141869" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_011543590.2:c.-153C>A" ], "proteinEffect": { "hgvs": "XP_011541892.1:n.-153C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS555294" }, { "coordinates": [ { "allele": "A", "end": 60, "endIntronDirection": "-", "endIntronOffset": 5683, "referenceAllele": "C", "start": 60, "startIntronDirection": "-", "startIntronOffset": 5684 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XM_017009778.2:c.-31-5684C>A" ], "proteinEffect": { "hgvs": "XP_016865267.1:n.-31-5684C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS563996" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742215.1:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591988" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_001742216.1:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591989" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_427718.2:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606473" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948290.2:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614989" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.2:n.820C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614990" }, { "@id": "http://reg.genome.network/allele/PA2829418923", "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.4:c.479C>A" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Ser160Ter", "hgvsWellDefined": "NP_003051.1:p.Ser160_Phe557delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.479C>A" }, "RefSeq": { "hgvs": "NM_003060.4:c.479C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Ser160Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Ser160Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499247535", "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.2:c.551C>A" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Ser184Ter", "hgvsWellDefined": "NP_001295051.1:p.Ser184_Phe581delinsGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717230" } ], "type": "nucleotide" }