{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397139091", "communityStandardTitle": [ "NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838966[alleleid]", "alleleId": 2838966, "preferredName": "NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2680562", "RCV": [ "RCV003460385" ], "variationId": 2680562 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89178506G>T?assembly=hg19", "id": "chr16:g.89178506G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89112098G>T?assembly=hg38", "id": "chr16:g.89112098G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1976753607", "rs": 1976753607 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89112098-G-T?dataset=gnomad_r3", "id": "16-89112098-G-T", "variant": "16:89112098 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89112098-G-T?dataset=gnomad_r4", "id": "16-89112098-G-T", "variant": "16:89112098 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89112098, "referenceAllele": "G", "start": 89112097 } ], "hgvs": [ "NC_000016.10:g.89112098G>T", "CM000678.2:g.89112098G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89178506, "referenceAllele": "G", "start": 89178505 } ], "hgvs": [ "NC_000016.9:g.89178506G>T", "CM000678.1:g.89178506G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87706007, "referenceAllele": "G", 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"ENSP00000320646.4:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746133" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.5:c.829G>T" ], "proteinEffect": { "hgvs": "ENSP00000479130.1:p.Glu277Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS761960", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.829G>T" }, "RefSeq": { "hgvs": "NM_001243279.3:c.829G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Glu277Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Glu277Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "G", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000649953.1:c.829G>T" ], "proteinEffect": { "hgvs": "ENSP00000497456.1:p.Glu277Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS257374" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000378345.8:c.34G>T" ], "proteinEffect": { "hgvs": "ENSP00000367596.4:p.Glu12Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS271995" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "G", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000406948.7:c.829G>T" ], "proteinEffect": { "hgvs": "ENSP00000384627.3:p.Glu277Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS280785" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000537895.5:c.34G>T" ], "proteinEffect": { "hgvs": "ENSP00000439201.1:p.Glu12Ter", "hgvsWellDefined": "ENSP00000439201.1:p.Glu12_Ala106del" }, "referenceSequence": "http://reg.genome.network/refseq/RS361020" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000538340.5:c.154G>T" ], "proteinEffect": { "hgvs": "ENSP00000445870.1:p.Glu52Ter", "hgvsWellDefined": "ENSP00000445870.1:p.Glu52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS361267" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": 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"http://reg.genome.network/refseq/RS363599" }, { "coordinates": [ { "allele": "T", "end": 71, "referenceAllele": "G", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000543676.1:c.71G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS364133" }, { "coordinates": [ { "allele": "T", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000544543.5:c.34G>T" ], "proteinEffect": { "hgvs": "ENSP00000442781.1:p.Glu12Ter", "hgvsWellDefined": "ENSP00000442781.1:p.Glu12_Thr235del" }, "referenceSequence": "http://reg.genome.network/refseq/RS364628" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "ENST00000614302.4:c.829G>T" ], 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"NP_001230208.1:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018478" }, { "@id": "http://reg.genome.network/allele/PA2826688991", "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "G", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.1:c.34G>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:p.Glu12Ter", "hgvsWellDefined": "NP_001271245.1:p.Glu12_Ser311delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022566" }, { "@id": "http://reg.genome.network/allele/PA2742026035", "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.4:c.829G>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Glu277Ter", "hgvsWellDefined": "NP_777577.2:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043093" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.1:n.1210G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053369" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Glu277Ter", "hgvsWellDefined": "XP_005256350.1:p.Glu277_Phe610delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061254" }, { "coordinates": [ { "allele": "T", "end": 1150, "referenceAllele": "G", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522942.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_011521244.1:p.Glu277Ter", "hgvsWellDefined": "XP_011521244.1:p.Glu277_Phe610delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090084" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522943.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_011521245.1:p.Glu277Ter", "hgvsWellDefined": "XP_011521245.1:p.Glu277_Phe610delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090085" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_011522944.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_011521246.1:p.Glu277Ter", "hgvsWellDefined": "XP_011521246.1:p.Glu277_Glu447delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090086" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.1:n.1173G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128938" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933239.1:n.1173G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128939" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.1:n.1173G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128940" }, { "coordinates": [ { "allele": "T", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933241.1:n.1173G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128941" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.1:n.1210G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530911" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "G", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.1:n.1210G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530912" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_005256293.2:c.829G>T" ], "proteinEffect": { "hgvs": "XP_005256350.1:p.Glu277Ter", "hgvsWellDefined": "XP_005256350.1:p.Glu277_Phe610delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534449" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023018.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_016878507.1:p.Glu277Ter", "hgvsWellDefined": "XP_016878507.1:p.Glu277_Phe610delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573845" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023019.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_016878508.1:p.Glu277Ter", "hgvsWellDefined": "XP_016878508.1:p.Glu277_Lys555delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAspGlyValSerProCysTrpProSerTrpSerArgThrProAspPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573846" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023020.2:c.-4180G>T" ], "proteinEffect": { "hgvs": "XP_016878509.1:n.-4180G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573847" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_017023021.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_016878510.1:p.Glu277Ter", "hgvsWellDefined": "XP_016878510.1:p.Glu277_Pro463delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyCysProLeuSerProAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573848" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450186.1:c.34G>T" ], "proteinEffect": { "hgvs": "XP_024305954.1:p.Glu12Ter", "hgvsWellDefined": "XP_024305954.1:p.Glu12_Phe345delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583727" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "G", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XM_024450187.1:c.34G>T" ], "proteinEffect": { "hgvs": "XP_024305955.1:p.Glu12Ter", "hgvsWellDefined": "XP_024305955.1:p.Glu12_Ser311delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583728" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751864.2:n.1172G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598660" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_001751865.1:n.1172G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598661" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933238.2:n.1172G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610396" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "XR_933240.3:n.1172G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610397" }, { "@id": "http://reg.genome.network/allele/PA2825631383", "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001127214.4:c.829G>T" ], "proteinEffect": { "hgvs": "NP_001120686.1:p.Glu277Ter", "hgvsWellDefined": "NP_001120686.1:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676853" }, { "@id": "http://reg.genome.network/allele/PA2826326186", "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001243279.3:c.829G>T" ], "proteinEffect": { "hgvs": "NP_001230208.1:p.Glu277Ter", "hgvsWellDefined": "NP_001230208.1:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000614302.5:c.829G>T" }, "RefSeq": { "hgvs": "NM_001243279.3:c.829G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000479130.1:p.Glu277Ter" }, "RefSeq": { "hgvs": "NP_001230208.1:p.Glu277Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826688991", "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_001284316.2:c.34G>T" ], "proteinEffect": { "hgvs": "NP_001271245.1:p.Glu12Ter", "hgvsWellDefined": "NP_001271245.1:p.Glu12_Ser311delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682055" }, { "@id": "http://reg.genome.network/allele/PA2742026035", "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NM_174917.5:c.829G>T" ], "proteinEffect": { "hgvs": "NP_777577.2:p.Glu277Ter", "hgvsWellDefined": "NP_777577.2:p.Glu277_Ser576delinsLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700677" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_104293.2:n.1167G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702984" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147928.2:n.1167G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704609" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "G", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN027288", "geneNCBI_id": 197322, "geneSymbol": "ACSF3", "hgvs": [ "NR_147929.2:n.1167G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704610" } ], "type": "nucleotide" }