{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA470066574", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3627A>T (p.Thr1209=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73490273A>T?assembly=hg19", "id": "chr10:g.73490273A>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 71730516, "referenceAllele": "A", "start": 71730515 } ], "hgvs": [ "NC_000010.11:g.71730516A>T", "CM000672.2:g.71730516A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73490273, "referenceAllele": "A", "start": 73490272 } ], "hgvs": [ "NC_000010.10:g.73490273A>T", "CM000672.1:g.73490273A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73160279, "referenceAllele": "A", "start": 73160278 } ], "hgvs": [ "NC_000010.9:g.73160279A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 338570, "referenceAllele": "A", "start": 338569 } ], "hgvs": [ "NG_008835.1:g.338570A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3627A>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3627A>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3627A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Thr1209=" }, "RefSeq": { "hgvs": "NP_071407.4:p.Thr1209=" } } } }, { "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "A", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3624A>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Thr1208=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "T", "end": 4032, "referenceAllele": "A", "start": 4031 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3642A>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Thr1214=" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7212, "referenceAllele": "T", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7211 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "ENST00000398786.2:c.-6+7212T>A" ], "proteinEffect": { "hgvs": "ENSP00000381766.3:n.-6+7212T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS278418" }, { "coordinates": [ { "allele": "T", "end": 319, "referenceAllele": "A", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.319A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "A", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3624A>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Thr1208=" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "T", "end": 3989, "referenceAllele": "A", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3627A>T" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "A", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3627A>T" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7212, "referenceAllele": "T", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7211 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.1:c.-6+7212T>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7212T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015107" }, { "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "A", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3627A>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA3076686250", "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "A", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3627A>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "T", "end": 3999, "referenceAllele": "A", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3756A>T" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Thr1252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "A", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3816A>T" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Thr1272=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "T", "end": 4017, "referenceAllele": "A", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3762A>T" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Thr1254=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "T", "end": 3749, "referenceAllele": "A", "start": 3748 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3687A>T" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Thr1229=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "T", "end": 3487, "referenceAllele": "A", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3282A>T" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Thr1094=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "A", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2640A>T" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Thr880=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 288, "referenceAllele": "A", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.150A>T" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Thr50=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3822A>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Thr1274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4065A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "A", "end": 123, "endIntronDirection": "+", "endIntronOffset": 7212, "referenceAllele": "T", "start": 123, "startIntronDirection": "+", "startIntronOffset": 7211 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.2:c.-6+7212T>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7212T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678588" }, { "coordinates": [ { "allele": "T", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3627A>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA3076686250", "coordinates": [ { "allele": "T", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3627A>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Thr1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3627A>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3627A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Thr1209=" }, "RefSeq": { "hgvs": "NP_071407.4:p.Thr1209=" } } } } ], "type": "nucleotide" }