{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA364718302", "communityStandardTitle": [ "NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2072927[alleleid]", "alleleId": 2072927, "preferredName": "NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2005981", "RCV": [ "RCV002837570" ], "variationId": 2005981 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.74351610C>T?assembly=hg19", "id": "chr6:g.74351610C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.73641887C>T?assembly=hg38", "id": "chr6:g.73641887C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1769303765", "rs": 1769303765 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 73641887, "referenceAllele": "C", "start": 73641886 } ], "hgvs": [ "NC_000006.12:g.73641887C>T", "CM000668.2:g.73641887C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 74351610, "referenceAllele": "C", "start": 74351609 } ], "hgvs": [ "NC_000006.11:g.74351610C>T", "CM000668.1:g.74351610C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 74408331, "referenceAllele": "C", "start": 74408330 } ], "hgvs": [ "NC_000006.10:g.74408331C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 17128, "referenceAllele": "G", "start": 17127 } ], "hgvs": [ "NG_008272.1:g.17128G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000987" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000355773.6:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000348019.5:p.Trp110Ter", "hgvsWellDefined": "ENSP00000348019.5:p.Trp110_His495delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748718", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355773.6:c.329G>A" }, "RefSeq": { "hgvs": "NM_012434.5:c.329G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348019.5:p.Trp110Ter" }, "RefSeq": { "hgvs": "NP_036566.1:p.Trp110Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000355773.5:c.329G>A" ], "proteinEffect": { "hgvs": "ENSP00000348019.5:p.Trp110Ter", "hgvsWellDefined": "ENSP00000348019.5:p.Trp110_His495delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263546" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "ENST00000481996.1:n.95G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321797" }, { "@id": "http://reg.genome.network/allele/PA2829733733", "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_012434.4:c.329G>A" ], "proteinEffect": { "hgvs": "NP_036566.1:p.Trp110Ter", "hgvsWellDefined": "NP_036566.1:p.Trp110_His495delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032590" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_005248710.2:c.278G>A" ], "proteinEffect": { "hgvs": "XP_005248767.1:p.Trp93Ter", "hgvsWellDefined": "XP_005248767.1:p.Trp93_His478delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058554" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_005248711.1:c.131G>A" ], "proteinEffect": { "hgvs": "XP_005248768.1:p.Trp44Ter", "hgvsWellDefined": "XP_005248768.1:p.Trp44_His429delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058555" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_011535750.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_011534052.1:p.Trp110Ter", "hgvsWellDefined": "XP_011534052.1:p.Trp110_Val397delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetLeuValSerSerTrpAlaSerGlnIleHisLeuProLeuPheGlnGluTrpLeuGlyProSerLeuLeuLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102753" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "XM_011535751.1:c.329G>A" ], "proteinEffect": { "hgvs": "XP_011534053.1:p.Trp110Ter", "hgvsWellDefined": "XP_011534053.1:p.Trp110_Asn309delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnIleIleLeuHisThrProMetValLeuLeuProCysPheLysAspHisTyrCysIleTrpLeuHisThrGluThrLeuTyrCysLeuIlePheIleAsnHisPheAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102754" }, { "@id": "http://reg.genome.network/allele/PA2829733733", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_012434.5:c.329G>A" ], "proteinEffect": { "hgvs": "NP_036566.1:p.Trp110Ter", "hgvsWellDefined": "NP_036566.1:p.Trp110_His495delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668048", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355773.6:c.329G>A" }, "RefSeq": { "hgvs": "NM_012434.5:c.329G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348019.5:p.Trp110Ter" }, "RefSeq": { "hgvs": "NP_036566.1:p.Trp110Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828909325", "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382629.1:c.98G>A" ], "proteinEffect": { "hgvs": "NP_001369558.1:p.Trp33Ter", "hgvsWellDefined": "NP_001369558.1:p.Trp33_His418delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722473" }, { "@id": "http://reg.genome.network/allele/PA2828909584", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382630.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001369559.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369559.1:p.Trp110_Lys470delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722474" }, { "@id": "http://reg.genome.network/allele/PA2828909812", "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382631.1:c.350G>A" ], "proteinEffect": { "hgvs": "NP_001369560.1:p.Trp117Ter", "hgvsWellDefined": "NP_001369560.1:p.Trp117_His502delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722475" }, { "@id": "http://reg.genome.network/allele/PA2828910005", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382632.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001369561.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369561.1:p.Trp110_His466delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722476" }, { "@id": "http://reg.genome.network/allele/PA2828910252", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382633.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001369562.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369562.1:p.Trp110_Lys533delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722477" }, { "@id": "http://reg.genome.network/allele/PA2828910499", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382634.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001369563.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369563.1:p.Trp110_His442delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722478" }, { "@id": "http://reg.genome.network/allele/PA2828910731", "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382635.1:c.329G>A" ], "proteinEffect": { "hgvs": "NP_001369564.1:p.Trp110Ter", "hgvsWellDefined": "NP_001369564.1:p.Trp110_His494delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaAlaGlnLeuGlyThrValIleSerLeuProLeuSerGlyIleIleCysTyrTyrMetAsnTrpThrTyrValPheTyrPhePheGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722479" }, { "@id": "http://reg.genome.network/allele/PA2580238542", "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382636.1:c.98G>A" ], "proteinEffect": { "hgvs": "NP_001369565.1:p.Trp33Ter", "hgvsWellDefined": "NP_001369565.1:p.Trp33_His389delinsIleLeuGlySerPhePheTyrGlyTyrIleIleThrGlnIleProGlyGlyTyrValAlaSerLysIleGlyGlyLysMetLeuLeuGlyPheGlyIleLeuGlyThrAlaValLeuThrLeuPheThrProIleAlaAlaAspLeuGlyValGlyProLeuIleValLeuArgAlaLeuGluGlyLeuGlyGluGlyValThrPheProAlaMetHisAlaMetTrpSerSerTrpAlaProProLeuGluArgSerLysLeuLeuSerIleSerTyrAlaGlyThrIleGlyIlePheTrpPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722480" } ], "type": "nucleotide" }