{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA408268912", "communityStandardTitle": [ "NM_024120.5(NDUFAF5):c.445G>T (p.Glu149Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2043488[alleleid]", "alleleId": 2043488, "preferredName": "NM_024120.5(NDUFAF5):c.445G>T (p.Glu149Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1985636", "RCV": [ "RCV003465829", "RCV002805290" ], "variationId": 1985636 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.13775553G>T?assembly=hg19", "id": "chr20:g.13775553G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.13794907G>T?assembly=hg38", "id": "chr20:g.13794907G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1982940735", "rs": 1982940735 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-13794907-G-T?dataset=gnomad_r4", "id": "20-13794907-G-T", "variant": "20:13794907 G / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 13794907, "referenceAllele": "G", "start": 13794906 } ], "hgvs": [ "NC_000020.11:g.13794907G>T", "CM000682.2:g.13794907G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 13775553, "referenceAllele": "G", "start": 13775552 } ], "hgvs": [ "NC_000020.10:g.13775553G>T", "CM000682.1:g.13775553G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 13723553, "referenceAllele": "G", "start": 13723552 } ], "hgvs": [ "NC_000020.9:g.13723553G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 14882, "referenceAllele": "G", "start": 14881 } ], "hgvs": [ "NG_015811.1:g.14882G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002843" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000378106.10:c.445G>T" ], "proteinEffect": { "hgvs": "ENSP00000367346.5:p.Glu149Ter", "hgvsWellDefined": "ENSP00000367346.5:p.Glu149_Gln345delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGlyMetGlyGluSerAsnCysAlaTrpAsnArgLysAlaLeuLeuHisArgAspThrMetLeuAlaAlaAlaAlaValTyrArgGluMetTyrArgAsnGluAspGlySerValProAlaThrTyrGlnIleTyrTyrMetIleGlyTrpLysTyrHisGluSerGlnAlaArgProAlaGluArgGlySerAlaThrValSerPheGlyGluLeuGlyLysIleAsnAsnLeuMetProProGlyLysLysSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752026", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378106.10:c.445G>T" }, "RefSeq": { "hgvs": "NM_024120.5:c.445G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367346.5:p.Glu149Ter" }, "RefSeq": { "hgvs": "NP_077025.2:p.Glu149Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000378081.9:c.445G>T" ], "proteinEffect": { "hgvs": "ENSP00000437325.1:p.Glu149Ter", "hgvsWellDefined": "ENSP00000437325.1:p.Glu149_Thr267delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGluGlnLysSerArgMetLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271877" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000378106.9:c.445G>T" ], "proteinEffect": { "hgvs": "ENSP00000367346.5:p.Glu149Ter", "hgvsWellDefined": "ENSP00000367346.5:p.Glu149_Gln345delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGlyMetGlyGluSerAsnCysAlaTrpAsnArgLysAlaLeuLeuHisArgAspThrMetLeuAlaAlaAlaAlaValTyrArgGluMetTyrArgAsnGluAspGlySerValProAlaThrTyrGlnIleTyrTyrMetIleGlyTrpLysTyrHisGluSerGlnAlaArgProAlaGluArgGlySerAlaThrValSerPheGlyGluLeuGlyLysIleAsnAsnLeuMetProProGlyLysLysSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271890" }, { "coordinates": [ { "allele": "T", "end": 414, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 414, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000463598.1:c.395+1680G>T" ], "proteinEffect": { "hgvs": "ENSP00000420497.1:n.395+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS307598" }, { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "G", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000464269.5:n.118G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308136" }, { "coordinates": [ { "allele": "T", "end": 356, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 356, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000475968.5:n.356+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317139" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000476536.5:n.405G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317561" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000477732.5:n.428G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318483" }, { "coordinates": [ { "allele": "T", "end": 356, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 356, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000481249.5:n.356+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321216" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "ENST00000485738.5:n.444G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324699" }, { "coordinates": [ { "allele": "T", "end": 438, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 438, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001039375.2:c.395+1680G>T" ], "proteinEffect": { "hgvs": "NP_001034464.1:n.395+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS009357" }, { "@id": "http://reg.genome.network/allele/PA2580454854", "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_024120.4:c.445G>T" ], "proteinEffect": { "hgvs": "NP_077025.2:p.Glu149Ter", "hgvsWellDefined": "NP_077025.2:p.Glu149_Gln345delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGlyMetGlyGluSerAsnCysAlaTrpAsnArgLysAlaLeuLeuHisArgAspThrMetLeuAlaAlaAlaAlaValTyrArgGluMetTyrArgAsnGluAspGlySerValProAlaThrTyrGlnIleTyrTyrMetIleGlyTrpLysTyrHisGluSerGlnAlaArgProAlaGluArgGlySerAlaThrValSerPheGlyGluLeuGlyLysIleAsnAsnLeuMetProProGlyLysLysSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037700" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_029377.1:n.488G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS048119" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_006723620.2:c.445G>T" ], "proteinEffect": { "hgvs": "XP_006723683.1:p.Glu149Ter", "hgvsWellDefined": "XP_006723683.1:p.Glu149_Val247delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValGlyLysAlaLeuIleAspAsnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075129" }, { "coordinates": [ { "allele": "T", "end": 403, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 403, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_006723622.2:c.8+1680G>T" ], "proteinEffect": { "hgvs": "XP_006723685.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075130" }, { "coordinates": [ { "allele": "T", "end": 540, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 540, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_006723623.1:c.8+1680G>T" ], "proteinEffect": { "hgvs": "XP_006723686.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075131" }, { "coordinates": [ { "allele": "T", "end": 549, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 549, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_006723624.1:c.8+1680G>T" ], "proteinEffect": { "hgvs": "XP_006723687.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS075132" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_011529341.1:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527643.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527643.1:p.Glu149_Gln317delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGluMetTyrArgAsnGluAspGlySerValProAlaThrTyrGlnIleTyrTyrMetIleGlyTrpLysTyrHisGluSerGlnAlaArgProAlaGluArgGlySerAlaThrValSerPheGlyGluLeuGlyLysIleAsnAsnLeuMetProProGlyLysLysSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096410" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_011529342.1:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527644.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527644.1:p.Glu149_Ser299delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValLysGlnGlyAlaTrpAlaSerArgAlaProAspValGlyLysGluProProGlyArgGluGluLeuThrGlyTrpArgThrArgLeuGlyThrGluGluAsnProGlyGlyPheThrProValThrSerValAspLeuLeuLeuThrPheLysTrpProGluSerIleGluThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096411" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_011529343.1:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527645.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527645.1:p.Glu149_Gly268delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnAspGlyValSerLeuCysArgLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096412" }, { "coordinates": [ { "allele": "T", "end": 877, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 877, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_011529344.1:c.110+1680G>T" ], "proteinEffect": { "hgvs": "XP_011527646.1:n.110+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS096413" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XR_430269.2:n.465G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118649" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XR_937140.1:n.465G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS132126" }, { "coordinates": [ { "allele": "T", "end": 418, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 418, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352403.1:c.8+1680G>T" ], "proteinEffect": { "hgvs": "NP_001339332.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS520854" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352406.1:c.-117G>T" ], "proteinEffect": { "hgvs": "NP_001339335.1:n.-117G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS520855" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352407.1:c.-117G>T" ], "proteinEffect": { "hgvs": "NP_001339336.1:n.-117G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS520856" }, { "@id": "http://reg.genome.network/allele/PA2827645644", "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352408.1:c.445G>T" ], "proteinEffect": { "hgvs": "NP_001339337.1:p.Glu149Ter", "hgvsWellDefined": "NP_001339337.1:p.Glu149_Val247delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValGlyLysAlaLeuIleAspAsnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520857" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147978.1:n.488G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530953" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147979.1:n.508G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530954" }, { "coordinates": [ { "allele": "T", "end": 418, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 418, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147980.1:n.418+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530955" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147981.1:n.622G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530956" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "G", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147982.1:n.622G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530957" }, { "coordinates": [ { "allele": "T", "end": 572, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 572, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147983.1:n.572+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530958" }, { "coordinates": [ { "allele": "T", "end": 549, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 549, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_006723624.2:c.8+1680G>T" ], "proteinEffect": { "hgvs": "XP_006723687.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540792" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_011529342.2:c.445G>T" ], "proteinEffect": { "hgvs": "XP_011527644.1:p.Glu149Ter", "hgvsWellDefined": "XP_011527644.1:p.Glu149_Ser299delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValLysGlnGlyAlaTrpAlaSerArgAlaProAspValGlyLysGluProProGlyArgGluGluLeuThrGlyTrpArgThrArgLeuGlyThrGluGluAsnProGlyGlyPheThrProValThrSerValAspLeuLeuLeuThrPheLysTrpProGluSerIleGluThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549465" }, { "coordinates": [ { "allele": "T", "end": 242, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 242, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XM_024451999.1:c.8+1680G>T" ], "proteinEffect": { "hgvs": "XP_024307767.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS585506" }, { "coordinates": [ { "allele": "T", "end": 438, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 438, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XR_001754396.1:n.438+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600556" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XR_430269.3:n.465G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606776" }, { "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "XR_937140.2:n.465G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611530" }, { "@id": "http://reg.genome.network/allele/PA2580454854", "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_024120.5:c.445G>T" ], "proteinEffect": { "hgvs": "NP_077025.2:p.Glu149Ter", "hgvsWellDefined": "NP_077025.2:p.Glu149_Gln345delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValAspThrAspGluIleGlnValAsnTyrProGlyMetPheGluLeuMetGluAspLeuGlnGlyMetGlyGluSerAsnCysAlaTrpAsnArgLysAlaLeuLeuHisArgAspThrMetLeuAlaAlaAlaAlaValTyrArgGluMetTyrArgAsnGluAspGlySerValProAlaThrTyrGlnIleTyrTyrMetIleGlyTrpLysTyrHisGluSerGlnAlaArgProAlaGluArgGlySerAlaThrValSerPheGlyGluLeuGlyLysIleAsnAsnLeuMetProProGlyLysLysSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670616", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378106.10:c.445G>T" }, "RefSeq": { "hgvs": "NM_024120.5:c.445G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367346.5:p.Glu149Ter" }, "RefSeq": { "hgvs": "NP_077025.2:p.Glu149Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 436, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 436, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001039375.3:c.395+1680G>T" ], "proteinEffect": { "hgvs": "NP_001034464.1:n.395+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS675890" }, { "coordinates": [ { "allele": "T", "end": 416, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 416, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352403.2:c.8+1680G>T" ], "proteinEffect": { "hgvs": "NP_001339332.1:n.8+1680G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689232" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "G", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352406.2:c.-117G>T" ], "proteinEffect": { "hgvs": "NP_001339335.1:n.-117G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689233" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352407.2:c.-117G>T" ], "proteinEffect": { "hgvs": "NP_001339336.1:n.-117G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS689234" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_029377.2:n.486G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702059" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147978.2:n.486G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704643" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "G", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147979.2:n.506G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704644" }, { "coordinates": [ { "allele": "T", "end": 416, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 416, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147980.2:n.416+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704645" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147981.2:n.620G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704646" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147982.2:n.620G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704647" }, { "coordinates": [ { "allele": "T", "end": 570, "endIntronDirection": "+", "endIntronOffset": 1680, "referenceAllele": "G", "start": 570, "startIntronDirection": "+", "startIntronOffset": 1679 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NR_147983.2:n.570+1680G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704648" }, { "@id": "http://reg.genome.network/allele/PA2827645644", "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN015899", "geneNCBI_id": 79133, "geneSymbol": "NDUFAF5", "hgvs": [ "NM_001352408.2:c.445G>T" ], "proteinEffect": { "hgvs": "NP_001339337.1:p.Glu149Ter", "hgvsWellDefined": "NP_001339337.1:p.Glu149_Val247delinsAsnThrPheAspLeuValValSerSerLeuSerLeuHisTrpValAsnAspLeuProArgAlaLeuGluGlnIleHisTyrIleLeuLysProAspGlyValPheIleGlyAlaMetPheGlyGlyAspThrLeuTyrGluLeuArgCysSerLeuGlnLeuAlaGluThrGluArgGluGlyGlyPheSerProHisIleSerProPheThrAlaValAsnAspLeuGlyHisLeuLeuGlyArgAlaGlyPheAsnThrLeuThrValGlyLysAlaLeuIleAspAsnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720043" } ], "type": "nucleotide" }