{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA378635839", "communityStandardTitle": [ "NM_000274.4(OAT):c.697C>T (p.Gln233Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1925803[alleleid]", "alleleId": 1925803, "preferredName": "NM_000274.4(OAT):c.697C>T (p.Gln233Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2192304", "RCV": [ "RCV002621041" ], "variationId": 2192304 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.126092441G>A?assembly=hg19", "id": "chr10:g.126092441G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.124403872G>A?assembly=hg38", "id": "chr10:g.124403872G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/780716161", "rs": 780716161 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 124403872, "referenceAllele": "G", "start": 124403871 } ], "hgvs": [ "NC_000010.11:g.124403872G>A", "CM000672.2:g.124403872G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 126092441, "referenceAllele": "G", "start": 126092440 } ], "hgvs": [ "NC_000010.10:g.126092441G>A", "CM000672.1:g.126092441G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 126082431, "referenceAllele": "G", "start": 126082430 } ], "hgvs": [ "NC_000010.9:g.126082431G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 20079, "referenceAllele": "C", "start": 20078 } ], "hgvs": [ "NG_008861.1:g.20079C>T", "LRG_685:g.20079C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001256" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.6:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Gln233Ter", "hgvsWellDefined": "ENSP00000357838.5:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.697C>T" }, "RefSeq": { "hgvs": "NM_000274.4:c.697C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Gln233Ter" }, "RefSeq": { "hgvs": "NP_000265.1:p.Gln233Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000368845.5:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000357838.5:p.Gln233Ter", "hgvsWellDefined": "ENSP00000357838.5:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267213" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000467675.5:n.498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310769" }, { "coordinates": [ { "allele": "T", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000483711.1:n.543C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323120" }, { "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "ENST00000539214.5:c.283C>T" ], "proteinEffect": { "hgvs": "ENSP00000439042.1:p.Gln95Ter", "hgvsWellDefined": "ENSP00000439042.1:p.Gln95_Phe301delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361734" }, { "@id": "http://reg.genome.network/allele/PA2825136939", "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "C", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.3:c.697C>T", "LRG_685t1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Gln233Ter", "hgvsWellDefined": "NP_000265.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006336" }, { "@id": "http://reg.genome.network/allele/PA2580156617", "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.1:c.283C>T" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Gln95Ter", "hgvsWellDefined": "NP_001165285.1:p.Gln95_Phe301delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015368" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_006717871.2:c.697C>T" ], "proteinEffect": { "hgvs": "XP_006717934.1:p.Gln233Ter", "hgvsWellDefined": "XP_006717934.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072355" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539833.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011538135.1:p.Gln233Ter", "hgvsWellDefined": "XP_011538135.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106783" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_011539834.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_011538136.1:p.Gln233Ter", "hgvsWellDefined": "XP_011538136.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827180953", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309894.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181315", "coordinates": [ { "allele": "T", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309895.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181679", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309896.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827182042", "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309897.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182405", "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309898.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA2827182745", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309899.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "@id": "http://reg.genome.network/allele/PA2827182913", "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Gln126Ter", "hgvsWellDefined": "NP_001309900.1:p.Gln126_Phe332delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "@id": "http://reg.genome.network/allele/PA2827183127", "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.97C>T" ], "proteinEffect": { "hgvs": "NP_001309903.1:p.Gln33Ter", "hgvsWellDefined": "NP_001309903.1:p.Gln33_Phe239delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "T", "end": 2625, "referenceAllele": "C", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.97C>T" ], "proteinEffect": { "hgvs": "XP_016871768.1:p.Gln33Ter", "hgvsWellDefined": "XP_016871768.1:p.Gln33_Phe239delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA2825136939", "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.697C>T" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Gln233Ter", "hgvsWellDefined": "NP_000265.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.697C>T" }, "RefSeq": { "hgvs": "NM_000274.4:c.697C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Gln233Ter" }, "RefSeq": { "hgvs": "NP_000265.1:p.Gln233Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827180953", "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309894.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181315", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309895.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181679", "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309896.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827182042", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309897.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182405", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309898.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA2827182745", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.697C>T" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gln233Ter", "hgvsWellDefined": "NP_001309899.1:p.Gln233_Phe439delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "@id": "http://reg.genome.network/allele/PA2827182913", "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.376C>T" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Gln126Ter", "hgvsWellDefined": "NP_001309900.1:p.Gln126_Phe332delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "@id": "http://reg.genome.network/allele/PA2827183127", "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.97C>T" ], "proteinEffect": { "hgvs": "NP_001309903.1:p.Gln33Ter", "hgvsWellDefined": "NP_001309903.1:p.Gln33_Phe239delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "@id": "http://reg.genome.network/allele/PA2580156617", "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.283C>T" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Gln95Ter", "hgvsWellDefined": "NP_001165285.1:p.Gln95_Phe301delinsGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }