{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377327721", "communityStandardTitle": [ "NM_033022.4(RPS24):c.46C>G (p.Arg16Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.79795152C>G?assembly=hg19", "id": "chr10:g.79795152C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.78035394C>G?assembly=hg38", "id": "chr10:g.78035394C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894189", "rs": 104894189 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-78035394-C-G?dataset=gnomad_r3", "id": "10-78035394-C-G", "variant": "10:78035394 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-78035394-C-G?dataset=gnomad_r4", "id": "10-78035394-C-G", "variant": "10:78035394 C / G" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 78035394, "referenceAllele": "C", "start": 78035393 } ], "hgvs": [ "NC_000010.11:g.78035394C>G", "CM000672.2:g.78035394C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 79795152, "referenceAllele": "C", "start": 79795151 } ], "hgvs": [ "NC_000010.10:g.79795152C>G", "CM000672.1:g.79795152C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 79465158, "referenceAllele": "C", "start": 79465157 } ], "hgvs": [ "NC_000010.9:g.79465158C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "G", "end": 6635, "referenceAllele": "C", "start": 6634 } ], "hgvs": [ "NG_012633.1:g.6635C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002488" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000360830.9:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000354074.5:p.Arg16Gly", "hgvsWellDefined": "ENSP00000354074.5:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS749364" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000372360.9:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000361435.4:p.Arg16Gly", "hgvsWellDefined": "ENSP00000361435.4:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS750986", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372360.9:c.46C>G" }, "RefSeq": { "hgvs": "NM_033022.4:c.46C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361435.4:p.Arg16Gly" }, "RefSeq": { "hgvs": "NP_148982.1:p.Arg16Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000440692.6:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000414321.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000414321.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS755807" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000464716.6:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000494231.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000494231.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS756809" }, { "coordinates": [ { "allele": "G", "end": 57, "referenceAllele": "C", "start": 56 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000465692.2:n.57C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS756849" }, { "coordinates": [ { "allele": "G", "end": 62, "referenceAllele": "C", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000466129.6:n.62C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS756864" }, { "coordinates": [ { "allele": "G", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000475468.6:n.456C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757154" }, { "coordinates": [ { "allele": "G", "end": 71, "referenceAllele": "C", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000476545.6:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000494169.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000494169.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS757192" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000478655.6:n.85C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757269" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000485708.7:n.85C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757515" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000613865.5:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000478869.2:p.Arg16Gly", "hgvsWellDefined": "ENSP00000478869.2:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS761938" }, { "coordinates": [ { "allele": "G", "end": 112, "referenceAllele": "C", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000645440.1:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000496738.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000496738.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS768351" }, { "coordinates": [ { "allele": "G", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000645698.1:n.74C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768507" }, { "coordinates": [ { "allele": "G", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000646254.1:n.255C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768777" }, { "coordinates": [ { "allele": "G", "end": 65, "referenceAllele": "C", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000360830.8:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000354074.4:p.Arg16Gly", "hgvsWellDefined": "ENSP00000354074.4:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS265261" }, { "coordinates": [ { "allele": "G", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000372360.7:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000361435.3:p.Arg16Gly", "hgvsWellDefined": "ENSP00000361435.3:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS269056" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000435275.5:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000415549.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000415549.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS293455" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000440692.5:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000414321.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000414321.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS296014" }, { "coordinates": [ { "allele": "G", "end": 74, "referenceAllele": "C", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000464716.5:n.74C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS308479" }, { "coordinates": [ { "allele": "G", "end": 43, "referenceAllele": "C", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000465692.1:n.43C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309243" }, { "coordinates": [ { "allele": "G", "end": 62, "referenceAllele": "C", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000466129.5:n.62C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309574" }, { "coordinates": [ { "allele": "G", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000475468.5:n.456C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS316744" }, { "coordinates": [ { "allele": "G", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000476545.5:n.70C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS317570" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000478655.5:n.85C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319216" }, { "coordinates": [ { "allele": "G", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000482069.5:n.113C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS321855" }, { "coordinates": [ { "allele": "G", "end": 104, "referenceAllele": "C", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000485708.6:n.104C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS324675" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000613865.4:c.46C>G" ], "proteinEffect": { "hgvs": "ENSP00000478869.1:p.Arg16Gly", "hgvsWellDefined": "ENSP00000478869.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS401921" }, { "@id": "http://reg.genome.network/allele/PA3076691226", "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001026.4:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001017.1:p.Arg16Gly", "hgvsWellDefined": "NP_001017.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS008904" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142282.1:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135754.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135754.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS012801" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142283.1:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135755.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135755.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS012802" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142284.1:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135756.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135756.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS012803" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142285.1:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135757.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135757.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS012804" }, { "coordinates": [ { "allele": "G", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_033022.3:c.46C>G" ], "proteinEffect": { "hgvs": "NP_148982.1:p.Arg16Gly", "hgvsWellDefined": "NP_148982.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS039472" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540034.1:c.199C>G" ], "proteinEffect": { "hgvs": "XP_011538336.1:p.Arg67Gly", "hgvsWellDefined": "XP_011538336.1:p.Arg67Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106984" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540035.1:c.199C>G" ], "proteinEffect": { "hgvs": "XP_011538337.1:p.Arg67Gly", "hgvsWellDefined": "XP_011538337.1:p.Arg67Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106985" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540036.1:c.199C>G" ], "proteinEffect": { "hgvs": "XP_011538338.1:p.Arg67Gly", "hgvsWellDefined": "XP_011538338.1:p.Arg67Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106986" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540037.1:c.199C>G" ], "proteinEffect": { "hgvs": "XP_011538339.1:p.Arg67Gly", "hgvsWellDefined": "XP_011538339.1:p.Arg67Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106987" }, { "coordinates": [ { "allele": "G", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540038.1:c.199C>G" ], "proteinEffect": { "hgvs": "XP_011538340.1:p.Arg67Gly", "hgvsWellDefined": "XP_011538340.1:p.Arg67Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS106988" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142285.2:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135757.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135757.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS677492" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_033022.4:c.46C>G" ], "proteinEffect": { "hgvs": "NP_148982.1:p.Arg16Gly", "hgvsWellDefined": "NP_148982.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS699247", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372360.9:c.46C>G" }, "RefSeq": { "hgvs": "NM_033022.4:c.46C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361435.4:p.Arg16Gly" }, "RefSeq": { "hgvs": "NP_148982.1:p.Arg16Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA3076691226", "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001026.5:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001017.1:p.Arg16Gly", "hgvsWellDefined": "NP_001017.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711467" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142282.2:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135754.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135754.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712540" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142283.2:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135755.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135755.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712541" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142284.2:c.46C>G" ], "proteinEffect": { "hgvs": "NP_001135756.1:p.Arg16Gly", "hgvsWellDefined": "NP_001135756.1:p.Arg16Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712542" } ], "type": "nucleotide" }