{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10602951", "communityStandardTitle": [ "NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264226[alleleid]", "alleleId": 264226, "preferredName": "NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279949", "RCV": [ "RCV000376321", "RCV001274463" ], "variationId": 279949 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.131714071G>A?assembly=hg19", "id": "chr5:g.131714071G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.132378379G>A?assembly=hg38", "id": "chr5:g.132378379G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886041277", "rs": 886041277 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-132378379-G-A?dataset=gnomad_r4", "id": "5-132378379-G-A", "variant": "5:132378379 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 132378379, "referenceAllele": "G", "start": 132378378 } ], "hgvs": [ "NC_000005.10:g.132378379G>A", "CM000667.2:g.132378379G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131714071, "referenceAllele": "G", "start": 131714070 } ], "hgvs": [ "NC_000005.9:g.131714071G>A", "CM000667.1:g.131714071G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 131741970, "referenceAllele": "G", "start": 131741969 } ], "hgvs": [ "NC_000005.8:g.131741970G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 13671, "referenceAllele": "G", "start": 13670 } ], "hgvs": [ "NG_008982.1:g.13671G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001353" }, { "coordinates": [ { "allele": "A", "end": 13676, "referenceAllele": "G", "start": 13675 } ], "hgvs": [ "NG_008982.2:g.13676G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616121" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000415928.6:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000388838.2:p.Trp132Ter", "hgvsWellDefined": "ENSP00000388838.2:p.Trp132_Glu431delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824654" }, { "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000435065.7:c.467G>A" ], "proteinEffect": { "hgvs": "ENSP00000402760.2:p.Trp156Ter", "hgvsWellDefined": "ENSP00000402760.2:p.Trp156_Phe581delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824868" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000448810.6:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000401860.2:p.Trp132Ter", "hgvsWellDefined": "ENSP00000401860.2:p.Trp132_Gly353delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824998" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000686757.1:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000510721.1:p.Trp132Ter", "hgvsWellDefined": "ENSP00000510721.1:p.Trp132_Pro284delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830725" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000687740.1:n.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831241" }, { "coordinates": [ { 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"ENSP00000510797.1:p.Trp132_Phe506delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832084" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000690900.1:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000510703.1:p.Trp132Ter", "hgvsWellDefined": "ENSP00000510703.1:p.Trp132_Pro268delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValValHisProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832936" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692413.1:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000509374.1:p.Trp132Ter", "hgvsWellDefined": "ENSP00000509374.1:p.Trp132_Phe551delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgLeuGluAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833710" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000692825.1:c.463G>A" ], "proteinEffect": { "hgvs": "ENSP00000509447.1:n.463G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833907" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693308.1:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000509770.1:p.Trp132Ter", "hgvsWellDefined": "ENSP00000509770.1:p.Trp132_Phe573delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyMetAlaIleArgAspArgAsnSerTrpGlnValSerSerTyrAsnIleLeuTyrValArgSerValHisIleLeuCysIleTrpLeuHisGlyAlaAlaThrValCysLeuLeuHisProArgLeuAlaAspAlaAlaGlyGlyAlaAspAspAlaGlyGlyAlaMetArgGlyThrLeuValGlyGlyLeuThrGluIleGlyProCysThrAlaArgPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834175" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000693763.1:n.529G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834419" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.8:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Trp132Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Trp132_Phe557delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741243", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245407.8:c.395G>A" }, "RefSeq": { "hgvs": "NM_003060.4:c.395G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245407.3:p.Trp132Ter" }, "RefSeq": { "hgvs": "NP_003051.1:p.Trp132Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "G", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "ENST00000245407.7:c.395G>A" ], "proteinEffect": { "hgvs": "ENSP00000245407.3:p.Trp132Ter", "hgvsWellDefined": "ENSP00000245407.3:p.Trp132_Phe557delinsAsnLeuValCysGluAspAspTrpLysAlaProLeuThrIleSerLeuPhePheValGlyValLeuLeuGlySerPheIleSerGlyGlnLeuSerAspArgPheGlyArgLysAsnValLeuPheValThrMetGlyMetGlnThrGlyPheSerPheLeuGlnIlePheSerLysAsnPheGluMetPheValValLeuPheValLeuValGlyMetGlyGlnIleSerAsnTyrValAlaAlaPheValLeuGlyThrGluIleLeuGlyLysSerValArgIleIlePheSerThrLeuGlyValCysIlePheTyrAlaPheGlyTyrMetValLeuProLeuPheAlaTyrPheIleArgAspTrpArgMetLeuLeuValAlaLeuThrMetProGlyValLeuCysValAlaLeuTrpTrpPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer" 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"http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_001308122.1:c.467G>A" ], "proteinEffect": { "hgvs": "NP_001295051.1:p.Trp156Ter", "hgvsWellDefined": 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"referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "XR_948291.2:n.736G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614990" }, { "@id": "http://reg.genome.network/allele/PA340578", "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN010969", "geneNCBI_id": 6584, "geneSymbol": "SLC22A5", "hgvs": [ "NM_003060.4:c.395G>A" ], "proteinEffect": { "hgvs": "NP_003051.1:p.Trp132Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS717230" } ], "type": "nucleotide" }