{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340729840", "communityStandardTitle": [ "NM_144701.3(IL23R):c.1835T>A (p.Phe612Tyr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67724756T>A?assembly=hg19", "id": "chr1:g.67724756T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67259073T>A?assembly=hg38", "id": "chr1:g.67259073T>A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67259073, "referenceAllele": "T", "start": 67259072 } ], "hgvs": [ "NC_000001.11:g.67259073T>A", "CM000663.2:g.67259073T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67724756, "referenceAllele": "T", "start": 67724755 } ], "hgvs": [ "NC_000001.10:g.67724756T>A", "CM000663.1:g.67724756T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67497344, "referenceAllele": "T", "start": 67497343 } ], "hgvs": [ "NC_000001.9:g.67497344T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 97588, "referenceAllele": "T", "start": 97587 } ], "hgvs": [ "NG_011498.1:g.97588T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001766" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1674, "referenceAllele": "T", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697149.1:c.1674T>A" ], "proteinEffect": { "hgvs": "ENSP00000513138.1:n.1674T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908554" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "T", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697150.1:c.1732T>A" ], "proteinEffect": { "hgvs": "ENSP00000513139.1:n.1732T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908555" }, { "coordinates": [ { "allele": "A", "end": 1665, "referenceAllele": "T", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697151.1:c.1665T>A" ], "proteinEffect": { "hgvs": "ENSP00000513140.1:n.1665T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908556" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "T", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697164.1:c.1745T>A" ], "proteinEffect": { "hgvs": "ENSP00000513153.1:p.Phe582Tyr", "hgvsWellDefined": "ENSP00000513153.1:p.Phe582Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908569" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "T", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697165.1:c.1532T>A" ], "proteinEffect": { "hgvs": "ENSP00000513154.1:p.Phe511Tyr", "hgvsWellDefined": "ENSP00000513154.1:p.Phe511Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908570" }, { "coordinates": [ { "allele": "A", "end": 1952, "referenceAllele": "T", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.10:c.1835T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Phe612Tyr", "hgvsWellDefined": "ENSP00000321345.5:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1835T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1835T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Phe612Tyr" }, "RefSeq": { "hgvs": "NP_653302.2:p.Phe612Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 2114, "referenceAllele": "T", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000637002.1:c.1226T>A" ], "proteinEffect": { "hgvs": "ENSP00000490340.1:p.Phe409Tyr", "hgvsWellDefined": "ENSP00000490340.1:p.Phe409Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763538" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "T", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.9:c.1835T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Phe612Tyr", "hgvsWellDefined": "ENSP00000321345.5:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262348" }, { "coordinates": [ { "allele": "A", "end": 861, "referenceAllele": "T", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000395227.2:c.629T>A" ], "proteinEffect": { "hgvs": "ENSP00000378652.2:p.Phe210Tyr", "hgvsWellDefined": "ENSP00000378652.2:p.Phe210Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276583" }, { "coordinates": [ { "allele": "A", "end": 1120, "referenceAllele": "T", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000425614.3:c.1070T>A" ], "proteinEffect": { "hgvs": "ENSP00000387640.2:p.Phe357Tyr", "hgvsWellDefined": "ENSP00000387640.2:p.Phe357Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS288838" }, { "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "T", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000473881.2:c.*661T>A" ], "proteinEffect": { "hgvs": "ENSP00000486667.1:n.*661T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS315520" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "T", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.2:c.1835T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Phe612Tyr", "hgvsWellDefined": "NP_653302.2:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS041217" }, { "coordinates": [ { "allele": "A", "end": 1566, "referenceAllele": "T", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_005270516.2:c.1073T>A" ], "proteinEffect": { "hgvs": "XP_005270573.1:p.Phe358Tyr", "hgvsWellDefined": "XP_005270573.1:p.Phe358Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS066559" }, { "coordinates": [ { "allele": "A", "end": 2449, "referenceAllele": "T", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540789.1:c.1925T>A" ], "proteinEffect": { "hgvs": "XP_011539091.1:p.Phe642Tyr", "hgvsWellDefined": "XP_011539091.1:p.Phe642Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107733" }, { "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "T", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.1:c.1835T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Phe612Tyr", "hgvsWellDefined": "XP_011539092.1:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107734" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "T", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.1:c.1835T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Phe612Tyr", "hgvsWellDefined": "XP_011539093.1:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107735" }, { "coordinates": [ { "allele": "A", "end": 2387, "referenceAllele": "T", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.3:c.1835T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Phe612Tyr", "hgvsWellDefined": "XP_011539092.1:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554170" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "T", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.3:c.1835T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Phe612Tyr", "hgvsWellDefined": "XP_011539093.1:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554171" }, { "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "T", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XR_001736993.1:n.1915T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587830" }, { "coordinates": [ { "allele": "A", "end": 1952, "referenceAllele": "T", "start": 1951 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.3:c.1835T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Phe612Tyr", "hgvsWellDefined": "NP_653302.2:p.Phe612Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS699932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1835T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1835T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Phe612Tyr" }, "RefSeq": { "hgvs": "NP_653302.2:p.Phe612Tyr" } } } } ], "type": "nucleotide" }