{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397133961", "communityStandardTitle": [ "NM_001243279.3(ACSF3):c.347G>A (p.Trp116Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89167436G>A?assembly=hg19", "id": "chr16:g.89167436G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89101028G>A?assembly=hg38", "id": "chr16:g.89101028G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2543521966", "rs": 2543521966 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89101028-G-A?dataset=gnomad_r4", "id": "16-89101028-G-A", "variant": "16:89101028 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89101028, "referenceAllele": "G", "start": 89101027 } ], "hgvs": [ "NC_000016.10:g.89101028G>A", "CM000678.2:g.89101028G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89167436, "referenceAllele": "G", "start": 89167435 } ], "hgvs": [ "NC_000016.9:g.89167436G>A", "CM000678.1:g.89167436G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 87694937, "referenceAllele": "G", "start": 87694936 } ], "hgvs": [ "NC_000016.8:g.87694937G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 12220, "referenceAllele": "G", "start": 12219 } ], "hgvs": [ "NG_031961.1:g.12220G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005056" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000317447.9:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000320646.4:p.Trp116Ter", "hgvsWellDefined": "ENSP00000320646.4:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746133" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.5:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000479130.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000479130.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.347G>A" }, "RefSeq": { "hgvs": "NM_001243279.3:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Trp116Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "G", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000649953.1:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000497456.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000497456.1:p.Trp116_Ser646delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770860" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000317447.8:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000320646.4:p.Trp116Ter", "hgvsWellDefined": "ENSP00000320646.4:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257374" }, { "coordinates": [ { "allele": "A", "end": 95, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 95, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000378345.8:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "ENSP00000367596.4:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS271995" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000406948.7:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000384627.3:p.Trp116Ter", "hgvsWellDefined": "ENSP00000384627.3:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280785" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000537290.5:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000440734.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000440734.1:p.Trp116_Val237del" }, "referenceSequence": "http://reg.genome.network/refseq/RS360699" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 104, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000537895.5:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "ENSP00000439201.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361020" }, { "coordinates": [ { "allele": "A", "end": 129, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 129, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000540697.5:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "ENSP00000445397.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS362538" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000542688.5:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000446281.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000446281.1:p.Trp116_Val368delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgPheArgGlyAspProThrAlaTrpSerThrGlyAlaHisCysLeuArgLysProThrGluGlySerLeuLeuLeuHisHisProArgArgGlyArgArgGluGlyAspGlnGlyAspProArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363599" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.4:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000479130.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000479130.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402124" }, { "@id": "http://reg.genome.network/allele/PA2825631145", "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "G", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.3:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Trp116Ter", "hgvsWellDefined": "NP_001120686.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011548" }, { "@id": "http://reg.genome.network/allele/PA2826326028", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.2:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Trp116Ter", "hgvsWellDefined": "NP_001230208.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018478" }, { "coordinates": [ { "allele": "A", "end": 184, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 184, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.1:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "NP_001271245.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022566" }, { "@id": "http://reg.genome.network/allele/PA312310", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.4:c.347G>A" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Trp116Ter", "hgvsWellDefined": "NP_777577.2:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043093" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.1:n.728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053369" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Trp116Ter", "hgvsWellDefined": "XP_005256350.1:p.Trp116_Phe610delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061254" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "G", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522942.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011521244.1:p.Trp116Ter", "hgvsWellDefined": "XP_011521244.1:p.Trp116_Phe610delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090084" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522943.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011521245.1:p.Trp116Ter", "hgvsWellDefined": "XP_011521245.1:p.Trp116_Phe610delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090085" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522944.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011521246.1:p.Trp116Ter", "hgvsWellDefined": "XP_011521246.1:p.Trp116_Glu447delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090086" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.1:n.691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128938" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933239.1:n.691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128939" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.1:n.691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128940" }, { "coordinates": [ { "allele": "A", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933241.1:n.691G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128941" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.1:n.728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530911" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.1:n.728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530912" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.2:c.347G>A" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Trp116Ter", "hgvsWellDefined": "XP_005256350.1:p.Trp116_Phe610delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534449" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023018.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_016878507.1:p.Trp116Ter", "hgvsWellDefined": "XP_016878507.1:p.Trp116_Phe610delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573845" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023019.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_016878508.1:p.Trp116Ter", "hgvsWellDefined": "XP_016878508.1:p.Trp116_Lys555delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAspGlyValSerProCysTrpProSerTrpSerArgThrProAspPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573846" }, { "coordinates": [ { "allele": "A", "end": 10, "referenceAllele": "G", "start": 9 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023020.2:c.-4662G>A" ], "proteinEffect": { "hgvs": "XP_016878509.1:n.-4662G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS573847" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023021.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_016878510.1:p.Trp116Ter", "hgvsWellDefined": "XP_016878510.1:p.Trp116_Pro463delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyCysProLeuSerProAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573848" }, { "coordinates": [ { "allele": "A", "end": 143, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 143, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450186.1:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "XP_024305954.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS583727" }, { "coordinates": [ { "allele": "A", "end": 119, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 119, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450187.1:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "XP_024305955.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS583728" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751864.2:n.690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598660" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751865.1:n.690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598661" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.2:n.690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610396" }, { "coordinates": [ { "allele": "A", "end": 690, "referenceAllele": "G", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.3:n.690G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610397" }, { "@id": "http://reg.genome.network/allele/PA2825631145", "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.4:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Trp116Ter", "hgvsWellDefined": "NP_001120686.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676853" }, { "@id": "http://reg.genome.network/allele/PA2826326028", "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.3:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Trp116Ter", "hgvsWellDefined": "NP_001230208.1:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.347G>A" }, "RefSeq": { "hgvs": "NM_001243279.3:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Trp116Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 141, "endIntronDirection": "-", "endIntronOffset": 1575, "referenceAllele": "G", "start": 141, "startIntronDirection": "-", "startIntronOffset": 1576 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.2:c.-129-1576G>A" ], "proteinEffect": { "hgvs": "NP_001271245.1:n.-129-1576G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682055" }, { "@id": "http://reg.genome.network/allele/PA312310", "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.5:c.347G>A" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Trp116Ter", "hgvsWellDefined": "NP_777577.2:p.Trp116_Ser576delinsMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700677" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.2:n.685G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702984" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.2:n.685G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704609" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "G", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.2:n.685G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704610" } ], "type": "nucleotide" }