{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA263925", "communityStandardTitle": [ "NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71194[alleleid]", "alleleId": 71194, "preferredName": "NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56555", "RCV": [ "RCV000049968" ], "variationId": 56555 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.74351630C>T?assembly=hg19", "id": "chr6:g.74351630C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.73641907C>T?assembly=hg38", "id": "chr6:g.73641907C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386833991", "rs": 386833991 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 73641907, "referenceAllele": "C", "start": 73641906 } ], "hgvs": [ "NC_000006.12:g.73641907C>T", "CM000668.2:g.73641907C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 74351630, "referenceAllele": "C", "start": 74351629 } ], "hgvs": [ "NC_000006.11:g.74351630C>T", "CM000668.1:g.74351630C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 74408351, "referenceAllele": "C", "start": 74408350 } ], "hgvs": [ "NC_000006.10:g.74408351C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 17108, "referenceAllele": "G", "start": 17107 } ], "hgvs": [ "NG_008272.1:g.17108G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000987" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000355773.6:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000348019.5:p.Trp103Ter", "hgvsWellDefined": "ENSP00000348019.5:p.Trp103_His495delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355773.6:c.309G>A" }, "RefSeq": { "hgvs": "NM_012434.5:c.309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348019.5:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_036566.1:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000355773.5:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000348019.5:p.Trp103Ter", "hgvsWellDefined": "ENSP00000348019.5:p.Trp103_His495delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263546" }, { "coordinates": [ { "allele": "A", "end": 75, "referenceAllele": "G", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000481996.1:n.75G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321797" }, { "@id": "http://reg.genome.network/allele/PA263926", "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_012434.4:c.309G>A" ], "proteinEffect": { "hgvs": "NP_036566.1:p.Trp103Ter", "hgvsWellDefined": "NP_036566.1:p.Trp103_His495delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032590" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_005248710.2:c.258G>A" ], "proteinEffect": { "hgvs": "XP_005248767.1:p.Trp86Ter", "hgvsWellDefined": "XP_005248767.1:p.Trp86_His478delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058554" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_005248711.1:c.111G>A" ], "proteinEffect": { "hgvs": "XP_005248768.1:p.Trp37Ter", "hgvsWellDefined": "XP_005248768.1:p.Trp37_His429delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058555" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_011535750.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_011534052.1:p.Trp103Ter", "hgvsWellDefined": "XP_011534052.1:p.Trp103_Val397delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetLeuValSerSerTrpAlaSerGlnIleHisLeuProLeuPheGlnGluTrpLeuGlyProSerLeuLeuLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102753" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_011535751.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_011534053.1:p.Trp103Ter", "hgvsWellDefined": "XP_011534053.1:p.Trp103_Asn309delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnIleIleLeuHisThrProMetValLeuLeuProCysPheLysAspHisTyrCysIleTrpLeuHisThrGluThrLeuTyrCysLeuIlePheIleAsnHisPheAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102754" }, { "@id": "http://reg.genome.network/allele/PA263926", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_012434.5:c.309G>A" ], "proteinEffect": { "hgvs": "NP_036566.1:p.Trp103Ter", "hgvsWellDefined": "NP_036566.1:p.Trp103_His495delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668048", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355773.6:c.309G>A" }, "RefSeq": { "hgvs": "NM_012434.5:c.309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348019.5:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_036566.1:p.Trp103Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828909320", "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382629.1:c.78G>A" ], "proteinEffect": { "hgvs": "NP_001369558.1:p.Trp26Ter", "hgvsWellDefined": "NP_001369558.1:p.Trp26_His418delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722473" }, { "@id": "http://reg.genome.network/allele/PA2828909579", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382630.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001369559.1:p.Trp103Ter", "hgvsWellDefined": "NP_001369559.1:p.Trp103_Lys470delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722474" }, { "@id": "http://reg.genome.network/allele/PA2828909807", "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382631.1:c.330G>A" ], "proteinEffect": { "hgvs": "NP_001369560.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369560.1:p.Trp110_His502delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722475" }, { "@id": "http://reg.genome.network/allele/PA2828910000", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382632.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001369561.1:p.Trp103Ter", "hgvsWellDefined": "NP_001369561.1:p.Trp103_His466delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722476" }, { "@id": "http://reg.genome.network/allele/PA2828910247", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382633.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001369562.1:p.Trp103Ter", "hgvsWellDefined": "NP_001369562.1:p.Trp103_Lys533delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722477" }, { "@id": "http://reg.genome.network/allele/PA2828910494", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382634.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001369563.1:p.Trp103Ter", "hgvsWellDefined": "NP_001369563.1:p.Trp103_His442delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722478" }, { "@id": "http://reg.genome.network/allele/PA2828910726", "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382635.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001369564.1:p.Trp103Ter", "hgvsWellDefined": "NP_001369564.1:p.Trp103_His494delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722479" }, { "@id": "http://reg.genome.network/allele/PA2741882070", "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382636.1:c.78G>A" ], "proteinEffect": { "hgvs": "NP_001369565.1:p.Trp26Ter", "hgvsWellDefined": "NP_001369565.1:p.Trp26_His389delinsAspAlaGluThrGlnGlyTrpIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722480" } ], "type": "nucleotide" }