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"http://reg.genome.network/refseq/RS680213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.1029G>A" }, "RefSeq": { "hgvs": "NM_001243279.3:c.1029G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Trp343Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Trp343Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916014205", "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.2:c.234G>A" ], "proteinEffect": { "hgvs": "NP_001271245.1:p.Trp78Ter", "hgvsWellDefined": "NP_001271245.1:p.Trp78_Ser311delinsLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682055" }, { "@id": "http://reg.genome.network/allele/PA645502936", "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.5:c.1029G>A" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Trp343Ter", "hgvsWellDefined": "NP_777577.2:p.Trp343_Ser576delinsLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700677" }, { "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.2:n.1367G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702984" }, { "coordinates": [ { "allele": "A", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.2:n.1367G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704609" }, { "coordinates": [ { "allele": "A", "end": 1315, "endIntronDirection": "+", "endIntronOffset": 2144, "referenceAllele": "G", "start": 1315, "startIntronDirection": "+", "startIntronOffset": 2143 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.2:n.1315+2144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704610" } ], "type": "nucleotide" }