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}, "referenceSequence": "http://reg.genome.network/refseq/RS106784" }, { "@id": "http://reg.genome.network/allele/PA2827180785", "coordinates": [ { "allele": "T", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gly17Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS515201" }, { "@id": "http://reg.genome.network/allele/PA2827181148", "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gly17Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS515202" }, { "@id": "http://reg.genome.network/allele/PA2827181511", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309896.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515203" }, { "@id": "http://reg.genome.network/allele/PA2827181875", "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "G", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309897.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515204" }, { "@id": "http://reg.genome.network/allele/PA2827182238", "coordinates": [ { "allele": "T", "end": 269, "referenceAllele": "G", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309898.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515205" }, { "@id": "http://reg.genome.network/allele/PA2827182600", "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309899.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515206" }, { "@id": "http://reg.genome.network/allele/PA2741860703", "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.1:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309900.1:p.Gly17_Phe332delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515207" }, { "coordinates": [ { "allele": "T", "end": 104, "endIntronDirection": "-", "endIntronOffset": 3157, "referenceAllele": "G", "start": 104, "startIntronDirection": "-", "startIntronOffset": 3158 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.1:c.-515-3158G>T" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-515-3158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS515208" }, { "coordinates": [ { "allele": "T", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "XM_017016279.1:c.-2405G>T" ], "proteinEffect": { "hgvs": "XP_016871768.1:n.-2405G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS568769" }, { "@id": "http://reg.genome.network/allele/PA2825136800", "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_000274.4:c.49G>T" ], "proteinEffect": { "hgvs": "NP_000265.1:p.Gly17Ter", "hgvsWellDefined": "NP_000265.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674772", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368845.6:c.49G>T" }, "RefSeq": { "hgvs": "NM_000274.4:c.49G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357838.5:p.Gly17Ter" }, "RefSeq": { "hgvs": "NP_000265.1:p.Gly17Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827180785", "coordinates": [ { "allele": "T", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322965.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309894.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309894.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685878" }, { "@id": "http://reg.genome.network/allele/PA2827181148", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322966.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309895.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309895.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685879" }, { "@id": "http://reg.genome.network/allele/PA2827181511", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322967.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309896.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309896.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685880" }, { "@id": "http://reg.genome.network/allele/PA2827181875", "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322968.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309897.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309897.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685881" }, { "@id": "http://reg.genome.network/allele/PA2827182238", "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322969.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309898.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309898.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685882" }, { "@id": "http://reg.genome.network/allele/PA2827182600", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322970.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309899.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309899.1:p.Gly17_Phe439delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysGlyIleTyrLeuTrpAspValGluGlyArgLysTyrPheAspPheLeuSerSerTyrSerAlaValAsnGlnGlyHisCysHisProLysIleValAsnAlaLeuLysSerGlnValAspLysLeuThrLeuThrSerArgAlaPheTyrAsnAsnValLeuGlyGluTyrGluGluTyrIleThrLysLeuPheAsnTyrHisLysValLeuProMetAsnThrGlyValGluAlaGlyGluThrAlaCysLysLeuAlaArgLysTrpGlyTyrThrValLysGlyIleGlnLysTyrLysAlaLysIleValPheAlaAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685883" }, { "@id": "http://reg.genome.network/allele/PA2741860703", "coordinates": [ { "allele": "T", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322971.2:c.49G>T" ], "proteinEffect": { "hgvs": "NP_001309900.1:p.Gly17Ter", "hgvsWellDefined": "NP_001309900.1:p.Gly17_Phe332delinsValHisSerSerValAlaSerAlaThrSerValAlaThrLysLysThrValGlnGlyProProThrSerAspAspIlePheGluArgGluTyrLysTyrGlyAlaHisAsnTyrHisProLeuProValAlaLeuGluArgGlyLysAlaGlyAsnPheTrpGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685884" }, { "coordinates": [ { "allele": "T", "end": 51, "endIntronDirection": "-", "endIntronOffset": 3157, "referenceAllele": "G", "start": 51, "startIntronDirection": "-", "startIntronOffset": 3158 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001322974.2:c.-515-3158G>T" ], "proteinEffect": { "hgvs": "NP_001309903.1:n.-515-3158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS685885" }, { "coordinates": [ { "allele": "T", "end": 51, "endIntronDirection": "-", "endIntronOffset": 3157, "referenceAllele": "G", "start": 51, "startIntronDirection": "-", "startIntronOffset": 3158 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.-215-3158G>T" ], "proteinEffect": { "hgvs": "NP_001165285.1:n.-215-3158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }