{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA470066584", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3630G>A (p.Gln1210=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73490276G>A?assembly=hg19", "id": "chr10:g.73490276G>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71730519, "referenceAllele": "G", "start": 71730518 } ], "hgvs": [ "NC_000010.11:g.71730519G>A", "CM000672.2:g.71730519G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73490276, "referenceAllele": "G", "start": 73490275 } ], "hgvs": [ "NC_000010.10:g.73490276G>A", "CM000672.1:g.73490276G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73160282, "referenceAllele": "G", "start": 73160281 } ], "hgvs": [ "NC_000010.9:g.73160282G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 338573, "referenceAllele": "G", "start": 338572 } ], "hgvs": [ "NG_008835.1:g.338573G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4034, "referenceAllele": "G", "start": 4033 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3630G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3630G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3630G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1210=" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1210=" } } } }, { "coordinates": [ { "allele": "A", "end": 4017, "referenceAllele": "G", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3627G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 4035, "referenceAllele": "G", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3645G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Gln1215=" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7209, "referenceAllele": "C", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7208 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "ENST00000398786.2:c.-6+7209C>T" ], "proteinEffect": { "hgvs": "ENSP00000381766.3:n.-6+7209C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS278418" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.322G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "A", "end": 4017, "referenceAllele": "G", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3627G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1209=" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 3992, "referenceAllele": "G", "start": 3991 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3630G>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3630G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7209, "referenceAllele": "C", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7208 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.1:c.-6+7209C>T" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7209C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS015107" }, { "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3630G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA3076776789", "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3630G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 4002, "referenceAllele": "G", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3759G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Gln1253=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 4062, "referenceAllele": "G", "start": 4061 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3819G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Gln1273=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3765G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Gln1255=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 3752, "referenceAllele": "G", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3690G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Gln1230=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 3490, "referenceAllele": "G", "start": 3489 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3285G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Gln1095=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2643G>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Gln881=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.153G>A" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Gln51=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3825G>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Gln1275=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4068G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 123, "endIntronDirection": "+", "endIntronOffset": 7209, "referenceAllele": "C", "start": 123, "startIntronDirection": "+", "startIntronOffset": 7208 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.2:c.-6+7209C>T" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7209C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678588" }, { "coordinates": [ { "allele": "A", "end": 4034, "referenceAllele": "G", "start": 4033 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3630G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA3076776789", "coordinates": [ { "allele": "A", "end": 4034, "referenceAllele": "G", "start": 4033 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3630G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1210=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3630G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3630G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1210=" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1210=" } } } } ], "type": "nucleotide" }