{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340730093", "communityStandardTitle": [ "NM_144701.3(IL23R):c.1873T>A (p.Ser625Thr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67724794T>A?assembly=hg19", "id": "chr1:g.67724794T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.67259111T>A?assembly=hg38", "id": "chr1:g.67259111T>A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67259111, "referenceAllele": "T", "start": 67259110 } ], "hgvs": [ "NC_000001.11:g.67259111T>A", "CM000663.2:g.67259111T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67724794, "referenceAllele": "T", "start": 67724793 } ], "hgvs": [ "NC_000001.10:g.67724794T>A", "CM000663.1:g.67724794T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 67497382, "referenceAllele": "T", "start": 67497381 } ], "hgvs": [ "NC_000001.9:g.67497382T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 97626, "referenceAllele": "T", "start": 97625 } ], "hgvs": [ "NG_011498.1:g.97626T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001766" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1712, "referenceAllele": "T", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697149.1:c.1712T>A" ], "proteinEffect": { "hgvs": "ENSP00000513138.1:n.1712T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908554" }, { "coordinates": [ { "allele": "A", "end": 1770, "referenceAllele": "T", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697150.1:c.1770T>A" ], "proteinEffect": { "hgvs": "ENSP00000513139.1:n.1770T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908555" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "T", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697151.1:c.1703T>A" ], "proteinEffect": { "hgvs": "ENSP00000513140.1:n.1703T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908556" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "T", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697164.1:c.1783T>A" ], "proteinEffect": { "hgvs": "ENSP00000513153.1:p.Ser595Thr", "hgvsWellDefined": "ENSP00000513153.1:p.Ser595Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908569" }, { "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "T", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000697165.1:c.1570T>A" ], "proteinEffect": { "hgvs": "ENSP00000513154.1:p.Ser524Thr", "hgvsWellDefined": "ENSP00000513154.1:p.Ser524Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908570" }, { "coordinates": [ { "allele": "A", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.10:c.1873T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Ser625Thr", "hgvsWellDefined": "ENSP00000321345.5:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1873T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1873T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Ser625Thr" }, "RefSeq": { "hgvs": "NP_653302.2:p.Ser625Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "T", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000637002.1:c.1264T>A" ], "proteinEffect": { "hgvs": "ENSP00000490340.1:p.Ser422Thr", "hgvsWellDefined": "ENSP00000490340.1:p.Ser422Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS763538" }, { "coordinates": [ { "allele": "A", "end": 2044, "referenceAllele": "T", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000347310.9:c.1873T>A" ], "proteinEffect": { "hgvs": "ENSP00000321345.5:p.Ser625Thr", "hgvsWellDefined": "ENSP00000321345.5:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262348" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "T", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000395227.2:c.667T>A" ], "proteinEffect": { "hgvs": "ENSP00000378652.2:p.Ser223Thr", "hgvsWellDefined": "ENSP00000378652.2:p.Ser223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276583" }, { "coordinates": [ { "allele": "A", "end": 1158, "referenceAllele": "T", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000425614.3:c.1108T>A" ], "proteinEffect": { "hgvs": "ENSP00000387640.2:p.Ser370Thr", "hgvsWellDefined": "ENSP00000387640.2:p.Ser370Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS288838" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "T", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "ENST00000473881.2:c.*699T>A" ], "proteinEffect": { "hgvs": "ENSP00000486667.1:n.*699T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS315520" }, { "coordinates": [ { "allele": "A", "end": 1958, "referenceAllele": "T", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.2:c.1873T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Ser625Thr", "hgvsWellDefined": "NP_653302.2:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS041217" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "T", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_005270516.2:c.1111T>A" ], "proteinEffect": { "hgvs": "XP_005270573.1:p.Ser371Thr", "hgvsWellDefined": "XP_005270573.1:p.Ser371Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS066559" }, { "coordinates": [ { "allele": "A", "end": 2487, "referenceAllele": "T", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540789.1:c.1963T>A" ], "proteinEffect": { "hgvs": "XP_011539091.1:p.Ser655Thr", "hgvsWellDefined": "XP_011539091.1:p.Ser655Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107733" }, { "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "T", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.1:c.1873T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Ser625Thr", "hgvsWellDefined": "XP_011539092.1:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107734" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "T", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.1:c.1873T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Ser625Thr", "hgvsWellDefined": "XP_011539093.1:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS107735" }, { "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "T", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540790.3:c.1873T>A" ], "proteinEffect": { "hgvs": "XP_011539092.1:p.Ser625Thr", "hgvsWellDefined": "XP_011539092.1:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554170" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "T", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XM_011540791.3:c.1873T>A" ], "proteinEffect": { "hgvs": "XP_011539093.1:p.Ser625Thr", "hgvsWellDefined": "XP_011539093.1:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554171" }, { "coordinates": [ { "allele": "A", "end": 1953, "referenceAllele": "T", "start": 1952 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "XR_001736993.1:n.1953T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587830" }, { "coordinates": [ { "allele": "A", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN019100", "geneNCBI_id": 149233, "geneSymbol": "IL23R", "hgvs": [ "NM_144701.3:c.1873T>A" ], "proteinEffect": { "hgvs": "NP_653302.2:p.Ser625Thr", "hgvsWellDefined": "NP_653302.2:p.Ser625Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS699932", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347310.10:c.1873T>A" }, "RefSeq": { "hgvs": "NM_144701.3:c.1873T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000321345.5:p.Ser625Thr" }, "RefSeq": { "hgvs": "NP_653302.2:p.Ser625Thr" } } } } ], "type": "nucleotide" }