{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8237798", "communityStandardTitle": [ "NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1429666[alleleid]", "alleleId": 1429666, "preferredName": "NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1451412", "RCV": [ "RCV002007207" ], "variationId": 1451412 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89169162-C-T", "id": "16-89169162-C-T", "variant": "16:89169162 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89169162C>T?assembly=hg19", "id": "chr16:g.89169162C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89102754C>T?assembly=hg38", "id": "chr16:g.89102754C>T" } ], "dbSNP": [ { "@id": 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"NP_001230208.1:p.Gln274_Ser576delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018478" }, { "@id": "http://reg.genome.network/allele/PA2573194879", "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.1:c.22C>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:p.Gln8Ter", "hgvsWellDefined": "NP_001271245.1:p.Gln9_Ser311delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022566" }, { "@id": "http://reg.genome.network/allele/PA2830373513", "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.4:c.817C>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Gln273Ter", "hgvsWellDefined": "NP_777577.2:p.Gln274_Ser576delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043093" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.1:n.1198C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053369" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Gln273Ter", "hgvsWellDefined": "XP_005256350.1:p.Gln274_Phe610delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061254" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522942.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_011521244.1:p.Gln273Ter", "hgvsWellDefined": "XP_011521244.1:p.Gln274_Phe610delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090084" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522943.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_011521245.1:p.Gln273Ter", "hgvsWellDefined": "XP_011521245.1:p.Gln274_Phe610delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090085" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522944.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_011521246.1:p.Gln273Ter", "hgvsWellDefined": "XP_011521246.1:p.Gln274_Glu447delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090086" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.1:n.1161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128938" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933239.1:n.1161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128939" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.1:n.1161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128940" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933241.1:n.1161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128941" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.1:n.1198C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530911" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.1:n.1198C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530912" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.2:c.817C>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Gln273Ter", "hgvsWellDefined": "XP_005256350.1:p.Gln274_Phe610delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534449" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023018.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_016878507.1:p.Gln273Ter", "hgvsWellDefined": "XP_016878507.1:p.Gln274_Phe610delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573845" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023019.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_016878508.1:p.Gln273Ter", "hgvsWellDefined": "XP_016878508.1:p.Gln274_Lys555delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAspGlyValSerProCysTrpProSerTrpSerArgThrProAspPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573846" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023020.2:c.-4192C>T" ], "proteinEffect": { "hgvs": "XP_016878509.1:n.-4192C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573847" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023021.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_016878510.1:p.Gln273Ter", "hgvsWellDefined": "XP_016878510.1:p.Gln274_Pro463delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyCysProLeuSerProAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573848" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450186.1:c.22C>T" ], "proteinEffect": { "hgvs": "XP_024305954.1:p.Gln8Ter", "hgvsWellDefined": "XP_024305954.1:p.Gln9_Phe345delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583727" }, { "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450187.1:c.22C>T" ], "proteinEffect": { "hgvs": "XP_024305955.1:p.Gln8Ter", "hgvsWellDefined": "XP_024305955.1:p.Gln9_Ser311delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583728" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751864.2:n.1160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598660" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751865.1:n.1160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598661" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.2:n.1160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610396" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.3:n.1160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610397" }, { "@id": "http://reg.genome.network/allele/PA2825631375", "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.4:c.817C>T" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Gln273Ter", "hgvsWellDefined": "NP_001120686.1:p.Gln274_Ser576delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676853" }, { "@id": "http://reg.genome.network/allele/PA2826326180", "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.3:c.817C>T" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Gln273Ter", "hgvsWellDefined": "NP_001230208.1:p.Gln274_Ser576delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.817C>T" }, "RefSeq": { "hgvs": "NM_001243279.3:c.817C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Gln273Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Gln273Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573194879", "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.2:c.22C>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:p.Gln8Ter", "hgvsWellDefined": "NP_001271245.1:p.Gln9_Ser311delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682055" }, { "@id": "http://reg.genome.network/allele/PA2830373513", "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.5:c.817C>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Gln273Ter", "hgvsWellDefined": "NP_777577.2:p.Gln274_Ser576delinsValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700677" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.2:n.1155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702984" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.2:n.1155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704609" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.2:n.1155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704610" } ], "type": "nucleotide" }