{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397134482", "communityStandardTitle": [ "NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2166694[alleleid]", "alleleId": 2166694, "preferredName": "NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2107530", "RCV": [ "RCV003017438" ], "variationId": 2107530 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89167537C>T?assembly=hg19", "id": "chr16:g.89167537C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89101129C>T?assembly=hg38", "id": "chr16:g.89101129C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767268139", "rs": 767268139 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89101129, "referenceAllele": "C", "start": 89101128 } ], "hgvs": [ "NC_000016.10:g.89101129C>T", "CM000678.2:g.89101129C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89167537, "referenceAllele": "C", "start": 89167536 } ], "hgvs": [ "NC_000016.9:g.89167537C>T", "CM000678.1:g.89167537C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87695038, "referenceAllele": "C", "start": 87695037 } ], "hgvs": [ "NC_000016.8:g.87695038C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 12321, "referenceAllele": "C", "start": 12320 } ], "hgvs": [ "NG_031961.1:g.12321C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005056" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000317447.9:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000320646.4:p.Gln150Ter", "hgvsWellDefined": "ENSP00000320646.4:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746133" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.5:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000479130.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000479130.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.448C>T" }, "RefSeq": { "hgvs": "NM_001243279.3:c.448C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Gln150Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Gln150Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000649953.1:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000497456.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000497456.1:p.Gln150_Ser646delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770860" }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000317447.8:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000320646.4:p.Gln150Ter", "hgvsWellDefined": "ENSP00000320646.4:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257374" }, { "coordinates": [ { "allele": "T", "end": 95, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 95, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000378345.8:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "ENSP00000367596.4:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271995" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000406948.7:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000384627.3:p.Gln150Ter", "hgvsWellDefined": "ENSP00000384627.3:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280785" }, { "coordinates": [ { "allele": "T", "end": 606, "referenceAllele": "C", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000537290.5:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000440734.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000440734.1:p.Gln150_Val237del" }, "referenceSequence": "http://reg.genome.network/refseq/RS360699" }, { "coordinates": [ { "allele": "T", "end": 104, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000537895.5:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "ENSP00000439201.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361020" }, { "coordinates": [ { "allele": "T", "end": 129, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 129, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000540697.5:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "ENSP00000445397.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS362538" }, { "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000542688.5:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000446281.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000446281.1:p.Gln150_Val368delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgPheArgGlyAspProThrAlaTrpSerThrGlyAlaHisCysLeuArgLysProThrGluGlySerLeuLeuLeuHisHisProArgArgGlyArgArgGluGlyAspGlnGlyAspProArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363599" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.4:c.448C>T" ], "proteinEffect": { "hgvs": "ENSP00000479130.1:p.Gln150Ter", "hgvsWellDefined": "ENSP00000479130.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402124" }, { "@id": "http://reg.genome.network/allele/PA2825631201", "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.3:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Gln150Ter", "hgvsWellDefined": "NP_001120686.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011548" }, { "@id": "http://reg.genome.network/allele/PA2826326064", "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.2:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Gln150Ter", "hgvsWellDefined": "NP_001230208.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018478" }, { "coordinates": [ { "allele": "T", "end": 184, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 184, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.1:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022566" }, { "@id": "http://reg.genome.network/allele/PA2580544456", "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.4:c.448C>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Gln150Ter", "hgvsWellDefined": "NP_777577.2:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043093" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.1:n.829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053369" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Gln150Ter", "hgvsWellDefined": "XP_005256350.1:p.Gln150_Phe610delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061254" }, { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522942.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011521244.1:p.Gln150Ter", "hgvsWellDefined": "XP_011521244.1:p.Gln150_Phe610delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090084" }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522943.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011521245.1:p.Gln150Ter", "hgvsWellDefined": "XP_011521245.1:p.Gln150_Phe610delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090085" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522944.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011521246.1:p.Gln150Ter", "hgvsWellDefined": "XP_011521246.1:p.Gln150_Glu447delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090086" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128938" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933239.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128939" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128940" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933241.1:n.792C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128941" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.1:n.829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530911" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.1:n.829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530912" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.2:c.448C>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Gln150Ter", "hgvsWellDefined": "XP_005256350.1:p.Gln150_Phe610delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534449" }, { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023018.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_016878507.1:p.Gln150Ter", "hgvsWellDefined": "XP_016878507.1:p.Gln150_Phe610delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573845" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023019.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_016878508.1:p.Gln150Ter", "hgvsWellDefined": "XP_016878508.1:p.Gln150_Lys555delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAspGlyValSerProCysTrpProSerTrpSerArgThrProAspPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573846" }, { "coordinates": [ { "allele": "T", "end": 111, "referenceAllele": "C", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023020.2:c.-4561C>T" ], "proteinEffect": { "hgvs": "XP_016878509.1:n.-4561C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573847" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023021.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_016878510.1:p.Gln150Ter", "hgvsWellDefined": "XP_016878510.1:p.Gln150_Pro463delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyCysProLeuSerProAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573848" }, { "coordinates": [ { "allele": "T", "end": 143, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 143, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450186.1:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "XP_024305954.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583727" }, { "coordinates": [ { "allele": "T", "end": 119, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 119, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450187.1:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "XP_024305955.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS583728" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751864.2:n.791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598660" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751865.1:n.791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598661" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.2:n.791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610396" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.3:n.791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610397" }, { "@id": "http://reg.genome.network/allele/PA2825631201", "coordinates": [ { "allele": "T", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.4:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Gln150Ter", "hgvsWellDefined": "NP_001120686.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676853" }, { "@id": "http://reg.genome.network/allele/PA2826326064", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.3:c.448C>T" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Gln150Ter", "hgvsWellDefined": "NP_001230208.1:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.448C>T" }, "RefSeq": { "hgvs": "NM_001243279.3:c.448C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Gln150Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Gln150Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 141, "endIntronDirection": "-", "endIntronOffset": 1474, "referenceAllele": "C", "start": 141, "startIntronDirection": "-", "startIntronOffset": 1475 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.2:c.-129-1475C>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:n.-129-1475C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS682055" }, { "@id": "http://reg.genome.network/allele/PA2580544456", "coordinates": [ { "allele": "T", "end": 782, "referenceAllele": "C", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.5:c.448C>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Gln150Ter", "hgvsWellDefined": "NP_777577.2:p.Gln150_Ser576delinsGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700677" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.2:n.786C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702984" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.2:n.786C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704609" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.2:n.786C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704610" } ], "type": "nucleotide" }