{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16044278", "communityStandardTitle": [ "NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3981108", "active": true, "id": "COSM3981108" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3981109", "active": true, "id": "COSM3981109" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3981110", "active": true, "id": "COSM3981110" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3981111", "active": true, "id": "COSM3981111" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362230[alleleid]", "alleleId": 362230, "preferredName": "NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375463", "RCV": [ "RCV000416554", "RCV001325987", "RCV001835791", "RCV003114533" ], "variationId": 375463 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73326547G>A?assembly=hg19", "id": "chr10:g.73326547G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71566790G>A?assembly=hg38", "id": "chr10:g.71566790G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519500", "rs": 1057519500 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73326547-G-A?dataset=gnomad_r2_1", "id": "10-73326547-G-A", "variant": "10:73326547 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71566790-G-A?dataset=gnomad_r3", "id": "10-71566790-G-A", "variant": "10:71566790 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71566790-G-A?dataset=gnomad_r4", "id": "10-71566790-G-A", "variant": "10:71566790 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71566790, "referenceAllele": "G", "start": 71566789 } ], "hgvs": [ "NC_000010.11:g.71566790G>A", "CM000672.2:g.71566790G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73326547, "referenceAllele": "G", "start": 73326546 } ], "hgvs": [ "NC_000010.10:g.73326547G>A", "CM000672.1:g.73326547G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 72996553, "referenceAllele": "G", "start": 72996552 } ], "hgvs": [ "NC_000010.9:g.72996553G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 174844, "referenceAllele": "G", "start": 174843 } ], "hgvs": [ "NG_008835.1:g.174844G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Asp160Asn", "hgvsWellDefined": "ENSP00000224721.9:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.478G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.478G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Asp160Asn" }, "RefSeq": { "hgvs": "NP_071407.4:p.Asp160Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Asp160Asn", "hgvsWellDefined": "ENSP00000381789.5:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.4:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000388894.3:p.Asp160Asn", "hgvsWellDefined": "ENSP00000388894.3:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS755918" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000643732.1:n.254G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767441" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "G", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000646131.1:c.142G>A" ], "proteinEffect": { "hgvs": "ENSP00000495098.1:p.Asp48Asn", "hgvsWellDefined": "ENSP00000495098.1:p.Asp48Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS768716" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.493G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Asp165Asn", "hgvsWellDefined": "ENSP00000224721.8:p.Asp165Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000299366.11:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000299366.8:p.Asp160Asn", "hgvsWellDefined": "ENSP00000299366.8:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS254714" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Asp160Asn", "hgvsWellDefined": "ENSP00000381789.5:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398842.7:c.301G>A" ], "proteinEffect": { "hgvs": "ENSP00000381822.4:p.Asp101Asn", "hgvsWellDefined": "ENSP00000381822.4:p.Asp101Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS278441" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000461841.7:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000473454.2:p.Asp160Asn", "hgvsWellDefined": "ENSP00000473454.2:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS306262" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Asp160Asn", "hgvsWellDefined": "ENSP00000482036.2:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.478G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Asp160Asn", "hgvsWellDefined": "ENSP00000483211.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826091041", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165401.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA2826093534", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.1:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165402.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS015392" }, { "@id": "http://reg.genome.network/allele/PA2826095886", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.1:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165403.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS015393" }, { "@id": "http://reg.genome.network/allele/PA645497702", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.478G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Asp160Asn", "hgvsWellDefined": "NP_071407.4:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "@id": "http://reg.genome.network/allele/PA916050861", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.3:c.478G>A" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Asp160Asn", "hgvsWellDefined": "NP_443068.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS039836" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.613G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Asp205Asn", "hgvsWellDefined": "XP_006718003.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.613G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Asp205Asn", "hgvsWellDefined": "XP_006718005.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538341.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538342.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538343.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538344.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538345.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.478G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Asp160Asn", "hgvsWellDefined": "XP_011538346.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538347.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.73G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Asp25Asn", "hgvsWellDefined": "XP_011538348.1:p.Asp25Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538350.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538351.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538352.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538353.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538355.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540054.1:c.613G>A" ], "proteinEffect": { "hgvs": "XP_011538356.1:p.Asp205Asn", "hgvsWellDefined": "XP_011538356.1:p.Asp205Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107004" }, { "coordinates": [ { "allele": "T", "end": 161, "endIntronDirection": "-", "endIntronOffset": 1655, "referenceAllele": "C", "start": 161, "startIntronDirection": "-", "startIntronOffset": 1656 } ], "hgvs": [ "XR_246128.2:n.162-1656C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117117" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.856G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "@id": "http://reg.genome.network/allele/PA2826091041", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165401.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA2826093534", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.2:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165402.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS678724" }, { "@id": "http://reg.genome.network/allele/PA645497702", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.478G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Asp160Asn", "hgvsWellDefined": "NP_071407.4:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.478G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.478G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Asp160Asn" }, "RefSeq": { "hgvs": "NP_071407.4:p.Asp160Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA916050861", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.4:c.478G>A" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Asp160Asn", "hgvsWellDefined": "NP_443068.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS699386" }, { "@id": "http://reg.genome.network/allele/PA2826095886", "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.2:c.478G>A" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Asp160Asn", "hgvsWellDefined": "NP_001165403.1:p.Asp160Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS713400" } ], "type": "nucleotide" }