{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340729724", "communityStandardTitle": [ "NM_144701.3(IL23R):c.1813T>A (p.Leu605Met)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67724734T>A?assembly=hg19", "id": "chr1:g.67724734T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67259051T>A?assembly=hg38", "id": "chr1:g.67259051T>A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67259051, "referenceAllele": "T", "start": 67259050 } ], "hgvs": [ "NC_000001.11:g.67259051T>A", "CM000663.2:g.67259051T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67724734, "referenceAllele": "T", "start": 67724733 } ], "hgvs": [ "NC_000001.10:g.67724734T>A", "CM000663.1:g.67724734T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67497322, "referenceAllele": "T", "start": 67497321 } ], "hgvs": [ "NC_000001.9:g.67497322T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 97566, "referenceAllele": "T", "start": 97565 } ], "hgvs": [ "NG_011498.1:g.97566T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001766" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "T", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697149.1:c.1652T>A" ], "proteinEffect": { "hgvs": "ENSP00000513138.1:n.1652T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908554" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "T", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697150.1:c.1710T>A" ], "proteinEffect": { "hgvs": "ENSP00000513139.1:n.1710T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908555" }, { "coordinates": [ { "allele": "A", "end": 1643, "referenceAllele": "T", "start": 1642 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697151.1:c.1643T>A" ], "proteinEffect": { "hgvs": "ENSP00000513140.1:n.1643T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908556" }, { "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "T", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697164.1:c.1723T>A" ], "proteinEffect": { "hgvs": "ENSP00000513153.1:p.Leu575Met", "hgvsWellDefined": "ENSP00000513153.1:p.Leu575Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS908569" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "T", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697165.1:c.1510T>A" ], "proteinEffect": { "hgvs": "ENSP00000513154.1:p.Leu504Met", "hgvsWellDefined": "ENSP00000513154.1:p.Leu504Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS908570" }, { "coordinates": [ { "allele": "A", "end": 1930, "referenceAllele": "T", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.10:c.1813T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Leu605Met", "hgvsWellDefined": "ENSP00000321345.5:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS748335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1813T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1813T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Leu605Met" }, "RefSeq": { "hgvs": "NP_653302.2:p.Leu605Met" } } } }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "T", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000637002.1:c.1204T>A" ], "proteinEffect": { "hgvs": "ENSP00000490340.1:p.Leu402Met", "hgvsWellDefined": "ENSP00000490340.1:p.Leu402Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS763538" }, { "coordinates": [ { "allele": "A", "end": 1984, "referenceAllele": "T", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.9:c.1813T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Leu605Met", "hgvsWellDefined": "ENSP00000321345.5:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS262348" }, { "coordinates": [ { "allele": "A", "end": 839, "referenceAllele": "T", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000395227.2:c.607T>A" ], "proteinEffect": { "hgvs": "ENSP00000378652.2:p.Leu203Met", "hgvsWellDefined": "ENSP00000378652.2:p.Leu203Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS276583" }, { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "T", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000425614.3:c.1048T>A" ], "proteinEffect": { "hgvs": "ENSP00000387640.2:p.Leu350Met", "hgvsWellDefined": "ENSP00000387640.2:p.Leu350Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS288838" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000473881.2:c.*639T>A" ], "proteinEffect": { "hgvs": "ENSP00000486667.1:n.*639T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS315520" }, { "coordinates": [ { "allele": "A", "end": 1898, "referenceAllele": "T", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.2:c.1813T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Leu605Met", "hgvsWellDefined": "NP_653302.2:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS041217" }, { "coordinates": [ { "allele": "A", "end": 1544, "referenceAllele": "T", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_005270516.2:c.1051T>A" ], "proteinEffect": { "hgvs": "XP_005270573.1:p.Leu351Met", "hgvsWellDefined": "XP_005270573.1:p.Leu351Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS066559" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "T", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540789.1:c.1903T>A" ], "proteinEffect": { "hgvs": "XP_011539091.1:p.Leu635Met", "hgvsWellDefined": "XP_011539091.1:p.Leu635Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107733" }, { "coordinates": [ { "allele": "A", "end": 2364, "referenceAllele": "T", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.1:c.1813T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Leu605Met", "hgvsWellDefined": "XP_011539092.1:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107734" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.1:c.1813T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Leu605Met", "hgvsWellDefined": "XP_011539093.1:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107735" }, { "coordinates": [ { "allele": "A", "end": 2365, "referenceAllele": "T", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.3:c.1813T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Leu605Met", "hgvsWellDefined": "XP_011539092.1:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554170" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.3:c.1813T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Leu605Met", "hgvsWellDefined": "XP_011539093.1:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS554171" }, { "coordinates": [ { "allele": "A", "end": 1893, "referenceAllele": "T", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XR_001736993.1:n.1893T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587830" }, { "coordinates": [ { "allele": "A", "end": 1930, "referenceAllele": "T", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.3:c.1813T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Leu605Met", "hgvsWellDefined": "NP_653302.2:p.Leu605Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS699932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1813T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1813T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Leu605Met" }, "RefSeq": { "hgvs": "NP_653302.2:p.Leu605Met" } } } } ], "type": "nucleotide" }