{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130463", "communityStandardTitle": [ "NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48299[alleleid]", "alleleId": 48299, "preferredName": "NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39700", "RCV": [ "RCV000032902", "RCV001531872" ], "variationId": 39700 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-78358945-G-A", "id": "17-78358945-G-A", "variant": "17:78358945 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78358945G>A?assembly=hg19", "id": "chr17:g.78358945G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.80385145G>A?assembly=hg38", "id": "chr17:g.80385145G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/112735431", "rs": 112735431 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78358945-G-A?dataset=gnomad_r2_1", "id": "17-78358945-G-A", "variant": "17:78358945 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80385145-G-A?dataset=gnomad_r3", "id": "17-80385145-G-A", "variant": "17:80385145 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-80385145-G-A?dataset=gnomad_r4", "id": "17-80385145-G-A", "variant": "17:80385145 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 80385145, "referenceAllele": "G", "start": 80385144 } ], "hgvs": [ "NC_000017.11:g.80385145G>A", "CM000679.2:g.80385145G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78358945, "referenceAllele": "G", "start": 78358944 } ], "hgvs": [ "NC_000017.10:g.78358945G>A", "CM000679.1:g.78358945G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75973540, "referenceAllele": "G", "start": 75973539 } ], "hgvs": [ "NC_000017.9:g.75973540G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 129285, "referenceAllele": "G", "start": 129284 } ], "hgvs": [ "NG_031980.2:g.129285G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005072" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 14588, "referenceAllele": "G", "start": 14587 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000582970.6:c.14429G>A" ], "proteinEffect": { "hgvs": "ENSP00000464087.1:p.Arg4810Lys", "hgvsWellDefined": "ENSP00000464087.1:p.Arg4810Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826217", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000582970.6:c.14429G>A" }, "RefSeq": { "hgvs": "NM_001256071.3:c.14429G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000464087.1:p.Arg4810Lys" }, "RefSeq": { "hgvs": "NP_001243000.2:p.Arg4810Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "G", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000411702.7:n.3478G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS282274" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000427003.7:n.543G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS289492" }, { "coordinates": [ { "allele": "A", "end": 14721, "referenceAllele": "G", "start": 14720 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000508628.6:c.14576G>A" ], "proteinEffect": { "hgvs": "ENSP00000425956.2:p.Arg4859Lys", "hgvsWellDefined": "ENSP00000425956.2:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS339605" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000570776.1:n.273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS382228" }, { "coordinates": [ { "allele": "A", "end": 14572, "referenceAllele": "G", "start": 14571 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "ENST00000582970.5:c.14429G>A" ], "proteinEffect": { "hgvs": "ENSP00000464087.1:p.Arg4810Lys", "hgvsWellDefined": "ENSP00000464087.1:p.Arg4810Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS387519" }, { "@id": "http://reg.genome.network/allele/PA130464", "coordinates": [ { "allele": "A", "end": 14579, "referenceAllele": "G", "start": 14578 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "NM_001256071.2:c.14429G>A" ], "proteinEffect": { "hgvs": "NP_001243000.2:p.Arg4810Lys", "hgvsWellDefined": "NP_001243000.2:p.Arg4810Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS019080" }, { "coordinates": [ { "allele": "T", "end": 240, "endIntronDirection": "+", "endIntronOffset": 29784, "referenceAllele": "C", "start": 240, "startIntronDirection": "+", "startIntronOffset": 29783 } ], "gene": "http://reg.genome.network/gene/GN054402", "geneNCBI_id": 100294362, "geneSymbol": "RNF213-AS1", "hgvs": [ "NR_029376.1:n.240+29784C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS048118" }, { "coordinates": [ { "allele": "A", "end": 14747, "referenceAllele": "G", "start": 14746 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_005257545.3:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_005257602.2:p.Arg4859Lys", "hgvsWellDefined": "XP_005257602.2:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061741" }, { "coordinates": [ { "allele": "A", "end": 14625, "referenceAllele": "G", "start": 14624 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_005257546.3:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_005257603.2:p.Arg4859Lys", "hgvsWellDefined": "XP_005257603.2:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061742" }, { "coordinates": [ { "allele": "A", "end": 14889, "referenceAllele": "G", "start": 14888 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_006721995.2:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_006722058.1:p.Arg4859Lys", "hgvsWellDefined": "XP_006722058.1:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS074361" }, { "coordinates": [ { "allele": "A", "end": 14640, "endIntronDirection": "-", "endIntronOffset": 392, "referenceAllele": "G", "start": 14640, "startIntronDirection": "-", "startIntronOffset": 393 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_011525084.1:c.14470-393G>A" ], "proteinEffect": { "hgvs": "XP_011523386.1:n.14470-393G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS092203" }, { "coordinates": [ { "allele": "A", "end": 14767, "referenceAllele": "G", "start": 14766 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_005257545.4:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_005257602.2:p.Arg4859Lys", "hgvsWellDefined": "XP_005257602.2:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS534676" }, { "coordinates": [ { "allele": "A", "end": 14671, "referenceAllele": "G", "start": 14670 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_005257546.4:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_005257603.2:p.Arg4859Lys", "hgvsWellDefined": "XP_005257603.2:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS534677" }, { "coordinates": [ { "allele": "A", "end": 15054, "referenceAllele": "G", "start": 15053 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_006721995.3:c.14576G>A" ], "proteinEffect": { "hgvs": "XP_006722058.1:p.Arg4859Lys", "hgvsWellDefined": "XP_006722058.1:p.Arg4859Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS540436" }, { "coordinates": [ { "allele": "A", "end": 14660, "endIntronDirection": "-", "endIntronOffset": 392, "referenceAllele": "G", "start": 14660, "startIntronDirection": "-", "startIntronOffset": 393 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_011525084.2:c.14470-393G>A" ], "proteinEffect": { "hgvs": "XP_011523386.1:n.14470-393G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547724" }, { "coordinates": [ { "allele": "A", "end": 13836, "referenceAllele": "G", "start": 13835 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "XM_017024905.2:c.13571G>A" ], "proteinEffect": { "hgvs": "XP_016880394.1:p.Arg4524Lys", "hgvsWellDefined": "XP_016880394.1:p.Arg4524Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS575349" }, { "@id": "http://reg.genome.network/allele/PA130464", "coordinates": [ { "allele": "A", "end": 14588, "referenceAllele": "G", "start": 14587 } ], "gene": "http://reg.genome.network/gene/GN014539", "geneNCBI_id": 57674, "geneSymbol": "RNF213", "hgvs": [ "NM_001256071.3:c.14429G>A" ], "proteinEffect": { "hgvs": "NP_001243000.2:p.Arg4810Lys", "hgvsWellDefined": "NP_001243000.2:p.Arg4810Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680490", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000582970.6:c.14429G>A" }, "RefSeq": { "hgvs": "NM_001256071.3:c.14429G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000464087.1:p.Arg4810Lys" }, "RefSeq": { "hgvs": "NP_001243000.2:p.Arg4810Lys" } } } } ], "type": "nucleotide" }