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"geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000468452.1:p.Glu77Ter", "hgvsWellDefined": "ENSP00000468452.1:p.Glu77_Lys204delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluGluSerGlySerValAlaGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnIleLeuProProArgLeuLysArgPheSerCysLeuHisProSerSerSerTrpAspTyrArgIleTrpLeuCysTrpGlyPheValCysGlyLeuTrpAlaProGlyProArgAlaGlyAlaGlyGlyGlnTrpLeuGlnValGlyAspGluCysProValLeuProArgHisAlaProTyrLeuCysLeuTrpGlnArgGlyThrAlaAlaGluValProAlaProAlaGlyGlnGlyGlyAlaProGlyLeuLeuArgAlaHisArgAlaGlnGlnArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392249" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590627.5:n.594G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392321" }, { "coordinates": [ { "allele": "T", "end": 265, "referenceAllele": "G", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591043.1:n.265G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392611" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591470.5:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000466845.1:p.Glu77Ter", "hgvsWellDefined": "ENSP00000466845.1:p.Glu77_Lys438delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392892" }, { "@id": "http://reg.genome.network/allele/PA2825069735", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.3:c.229G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu77Ter", "hgvsWellDefined": "NP_000150.1:p.Glu77_Lys438delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA1139728652", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.229G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu77Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032843" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102316.1:n.337G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052774" }, { "coordinates": [ { "allele": "T", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102317.1:n.645G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052775" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_006722721.2:c.229G>T" ], "proteinEffect": { "hgvs": "XP_006722784.1:p.Glu77Ter", "hgvsWellDefined": "XP_006722784.1:p.Glu77_Arg442delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.229G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu77Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu77_Ser446delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.229G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu77Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu77_Trp443delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.229G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu77Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu77_Ser446delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.229G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu77Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu77_Trp443delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.229G>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Glu77Ter", "hgvsWellDefined": "XP_016882069.1:p.Glu77_Arg442delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825069735", "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.229G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu77Ter", "hgvsWellDefined": "NP_000150.1:p.Glu77_Lys438delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.229G>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.229G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Glu77Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Glu77Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139728652", "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.229G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu77Ter", "hgvsWellDefined": "NP_039663.1:p.Glu77_Leu428delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA1139728652", "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.229G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu77Ter", "hgvsWellDefined": "NP_039663.1:p.Glu77_Leu428delinsArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }