{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA239352", "communityStandardTitle": [ "NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2160921", "active": true, "id": "COSM2160921" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2160922", "active": true, "id": "COSM2160922" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2160923", "active": true, "id": "COSM2160923" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4015562", "active": true, "id": "COSM4015562" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19968[alleleid]", "alleleId": 19968, "preferredName": "NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4929", "RCV": [ "RCV000005212", "RCV000173892", "RCV001775064", "RCV003478971", "RCV003472979" ], "variationId": 4929 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73375330-G-A", "id": "10-73375330-G-A", "variant": "10:73375330 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73375330G>A?assembly=hg19", "id": "chr10:g.73375330G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71615573G>A?assembly=hg38", "id": "chr10:g.71615573G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908355", "rs": 121908355 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73375330-G-A?dataset=gnomad_r2_1", "id": "10-73375330-G-A", "variant": "10:73375330 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71615573-G-A?dataset=gnomad_r3", "id": "10-71615573-G-A", "variant": "10:71615573 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71615573-G-A?dataset=gnomad_r4", "id": "10-71615573-G-A", "variant": "10:71615573 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71615573, "referenceAllele": "G", "start": 71615572 } ], "hgvs": [ "NC_000010.11:g.71615573G>A", "CM000672.2:g.71615573G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73375330, "referenceAllele": "G", "start": 73375329 } ], "hgvs": [ "NC_000010.10:g.73375330G>A", "CM000672.1:g.73375330G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73045336, "referenceAllele": "G", "start": 73045335 } ], "hgvs": [ "NC_000010.9:g.73045336G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 223627, "referenceAllele": "G", "start": 223626 } ], "hgvs": [ "NG_008835.1:g.223627G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Arg301Gln", "hgvsWellDefined": "ENSP00000224721.9:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.902G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.902G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg301Gln" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg301Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Arg301Gln", "hgvsWellDefined": "ENSP00000381789.5:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "G", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.4:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000388894.3:p.Arg301Gln", "hgvsWellDefined": "ENSP00000388894.3:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS755918" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.8:c.273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756880" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000643732.1:n.678G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767441" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000646131.1:c.566G>A" ], "proteinEffect": { "hgvs": "ENSP00000495098.1:p.Arg189Gln", "hgvsWellDefined": "ENSP00000495098.1:p.Arg189Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS768716" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.917G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Arg306Gln", "hgvsWellDefined": "ENSP00000224721.8:p.Arg306Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "G", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000299366.11:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000299366.8:p.Arg301Gln", "hgvsWellDefined": "ENSP00000299366.8:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS254714" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Arg301Gln", "hgvsWellDefined": "ENSP00000381789.5:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398842.7:c.653G>A" ], "proteinEffect": { "hgvs": "ENSP00000381822.4:p.Arg218Gln", "hgvsWellDefined": "ENSP00000381822.4:p.Arg218Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278441" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000461841.7:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000473454.2:p.Arg301Gln", "hgvsWellDefined": "ENSP00000473454.2:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS306262" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.7:c.273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310034" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "G", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Arg301Gln", "hgvsWellDefined": "ENSP00000482036.2:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.902G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Arg301Gln", "hgvsWellDefined": "ENSP00000483211.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826091330", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165401.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA2826093840", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.1:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165402.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS015392" }, { "@id": "http://reg.genome.network/allele/PA2826096158", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.1:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165403.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS015393" }, { "@id": "http://reg.genome.network/allele/PA239353", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.902G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg301Gln", "hgvsWellDefined": "NP_071407.4:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "@id": "http://reg.genome.network/allele/PA916050923", "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.3:c.902G>A" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Arg301Gln", "hgvsWellDefined": "NP_443068.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS039836" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Arg346Gln", "hgvsWellDefined": "XP_006718003.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Arg346Gln", "hgvsWellDefined": "XP_006718005.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538341.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538342.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538343.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538344.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538345.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 964, "referenceAllele": "G", "start": 963 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.902G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Arg301Gln", "hgvsWellDefined": "XP_011538346.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538347.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.497G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Arg166Gln", "hgvsWellDefined": "XP_011538348.1:p.Arg166Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538350.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538351.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538352.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538353.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538355.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 1292, "referenceAllele": "G", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540054.1:c.1037G>A" ], "proteinEffect": { "hgvs": "XP_011538356.1:p.Arg346Gln", "hgvsWellDefined": "XP_011538356.1:p.Arg346Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS107004" }, { "coordinates": [ { "allele": "A", "end": 1280, "referenceAllele": "G", "start": 1279 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.1280G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "@id": "http://reg.genome.network/allele/PA2826091330", "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165401.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA2826093840", "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.2:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165402.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678724" }, { "@id": "http://reg.genome.network/allele/PA239353", "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.902G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg301Gln", "hgvsWellDefined": "NP_071407.4:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.902G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.902G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg301Gln" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg301Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA916050923", "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.4:c.902G>A" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Arg301Gln", "hgvsWellDefined": "NP_443068.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS699386" }, { "@id": "http://reg.genome.network/allele/PA2826096158", "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.2:c.902G>A" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Arg301Gln", "hgvsWellDefined": "NP_001165403.1:p.Arg301Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713400" } ], "type": "nucleotide" }