{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377142659", "communityStandardTitle": [ "NM_022124.6(CDH23):c.5237G>C (p.Arg1746Pro)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73539073G>C?assembly=hg19", "id": "chr10:g.73539073G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71779316G>C?assembly=hg38", "id": "chr10:g.71779316G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/111033270", "rs": 111033270 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 71779316, "referenceAllele": "G", "start": 71779315 } ], "hgvs": [ "NC_000010.11:g.71779316G>C", "CM000672.2:g.71779316G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 73539073, "referenceAllele": "G", "start": 73539072 } ], "hgvs": [ "NC_000010.10:g.73539073G>C", "CM000672.1:g.73539073G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 73209079, "referenceAllele": "G", "start": 73209078 } ], "hgvs": [ "NC_000010.9:g.73209079G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 387370, "referenceAllele": "G", "start": 387369 } ], "hgvs": [ "NG_008835.1:g.387370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 5641, "referenceAllele": "G", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.5237G>C" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Arg1746Pro", "hgvsWellDefined": "ENSP00000224721.9:p.Arg1746Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.5237G>C" }, "RefSeq": { "hgvs": "NM_022124.6:c.5237G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg1746Pro" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg1746Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 5642, "referenceAllele": "G", "start": 5641 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.5252G>C" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Arg1751Pro", "hgvsWellDefined": "ENSP00000224721.8:p.Arg1751Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "C", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.5237G>C" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Arg1746Pro", "hgvsWellDefined": "ENSP00000483211.1:p.Arg1746Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA3076691303", "coordinates": [ { "allele": "C", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.5237G>C" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg1746Pro", "hgvsWellDefined": "NP_071407.4:p.Arg1746Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Arg1811Pro", "hgvsWellDefined": "XP_006718003.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "C", "end": 5609, "referenceAllele": "G", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.5366G>C" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Arg1789Pro", "hgvsWellDefined": "XP_006718005.1:p.Arg1789Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "C", "end": 5672, "referenceAllele": "G", "start": 5671 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.5429G>C" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Arg1810Pro", "hgvsWellDefined": "XP_011538341.1:p.Arg1810Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "C", "end": 5669, "referenceAllele": "G", "start": 5668 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.5426G>C" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Arg1809Pro", "hgvsWellDefined": "XP_011538342.1:p.Arg1809Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "C", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.5372G>C" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Arg1791Pro", "hgvsWellDefined": "XP_011538343.1:p.Arg1791Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538344.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538345.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "C", "end": 5359, "referenceAllele": "G", "start": 5358 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.5297G>C" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Arg1766Pro", "hgvsWellDefined": "XP_011538346.1:p.Arg1766Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538347.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "C", "end": 5097, "referenceAllele": "G", "start": 5096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.4892G>C" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Arg1631Pro", "hgvsWellDefined": "XP_011538348.1:p.Arg1631Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "C", "end": 4265, "referenceAllele": "G", "start": 4264 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.4250G>C" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Arg1417Pro", "hgvsWellDefined": "XP_011538349.1:p.Arg1417Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538350.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538351.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538352.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538353.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "C", "end": 1898, "referenceAllele": "G", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.1760G>C" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Arg587Pro", "hgvsWellDefined": "XP_011538354.1:p.Arg587Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.5432G>C" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Arg1811Pro", "hgvsWellDefined": "XP_011538355.1:p.Arg1811Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "C", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.5675G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "@id": "http://reg.genome.network/allele/PA3076691303", "coordinates": [ { "allele": "C", "end": 5641, "referenceAllele": "G", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.5237G>C" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg1746Pro", "hgvsWellDefined": "NP_071407.4:p.Arg1746Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.5237G>C" }, "RefSeq": { "hgvs": "NM_022124.6:c.5237G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg1746Pro" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg1746Pro" } } } } ], "type": "nucleotide" }