{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377154469", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3634C>A (p.Gln1212Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73490280C>A?assembly=hg19", "id": "chr10:g.73490280C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71730523C>A?assembly=hg38", "id": "chr10:g.71730523C>A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71730523, "referenceAllele": "C", "start": 71730522 } ], "hgvs": [ "NC_000010.11:g.71730523C>A", "CM000672.2:g.71730523C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73490280, "referenceAllele": "C", "start": 73490279 } ], "hgvs": [ "NC_000010.10:g.73490280C>A", "CM000672.1:g.73490280C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73160286, "referenceAllele": "C", "start": 73160285 } ], "hgvs": [ "NC_000010.9:g.73160286C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 338577, "referenceAllele": "C", "start": 338576 } ], "hgvs": [ "NG_008835.1:g.338577C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "C", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3634C>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Gln1212Lys", "hgvsWellDefined": "ENSP00000224721.9:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3634C>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3634C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1212Lys" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1212Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "C", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3631C>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1211Lys", "hgvsWellDefined": "ENSP00000381789.5:p.Gln1211Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3649C>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Gln1217Lys", "hgvsWellDefined": "ENSP00000224721.8:p.Gln1217Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7205, "referenceAllele": "G", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7204 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "ENST00000398786.2:c.-6+7205G>T" ], "proteinEffect": { "hgvs": "ENSP00000381766.3:n.-6+7205G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS278418" }, { "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.326C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "C", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3631C>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1211Lys", "hgvsWellDefined": "ENSP00000381789.5:p.Gln1211Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 3996, "referenceAllele": "C", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3634C>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Gln1212Lys", "hgvsWellDefined": "ENSP00000482036.2:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3634C>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Gln1212Lys", "hgvsWellDefined": "ENSP00000483211.1:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "T", "end": 97, "endIntronDirection": "+", "endIntronOffset": 7205, "referenceAllele": "G", "start": 97, "startIntronDirection": "+", "startIntronOffset": 7204 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.1:c.-6+7205G>T" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7205G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS015107" }, { "coordinates": [ { "allele": "A", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3634C>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1212Lys", "hgvsWellDefined": "NP_001165401.1:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "coordinates": [ { "allele": "A", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3634C>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1212Lys", "hgvsWellDefined": "NP_071407.4:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Gln1277Lys", "hgvsWellDefined": "XP_006718003.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "C", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3763C>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Gln1255Lys", "hgvsWellDefined": "XP_006718005.1:p.Gln1255Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538341.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 4066, "referenceAllele": "C", "start": 4065 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3823C>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Gln1275Lys", "hgvsWellDefined": "XP_011538342.1:p.Gln1275Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 4024, "referenceAllele": "C", "start": 4023 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3769C>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Gln1257Lys", "hgvsWellDefined": "XP_011538343.1:p.Gln1257Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538344.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538345.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 3756, "referenceAllele": "C", "start": 3755 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3694C>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Gln1232Lys", "hgvsWellDefined": "XP_011538346.1:p.Gln1232Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538347.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3289C>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Gln1097Lys", "hgvsWellDefined": "XP_011538348.1:p.Gln1097Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2647C>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Gln883Lys", "hgvsWellDefined": "XP_011538349.1:p.Gln883Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538350.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538351.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538352.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538353.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.157C>A" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Gln53Lys", "hgvsWellDefined": "XP_011538354.1:p.Gln53Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3829C>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Gln1277Lys", "hgvsWellDefined": "XP_011538355.1:p.Gln1277Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4072C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 123, "endIntronDirection": "+", "endIntronOffset": 7205, "referenceAllele": "G", "start": 123, "startIntronDirection": "+", "startIntronOffset": 7204 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.2:c.-6+7205G>T" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+7205G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678588" }, { "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "C", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3634C>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1212Lys", "hgvsWellDefined": "NP_001165401.1:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "C", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3634C>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1212Lys", "hgvsWellDefined": "NP_071407.4:p.Gln1212Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3634C>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3634C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1212Lys" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1212Lys" } } } } ], "type": "nucleotide" }