{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA233643", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177262[alleleid]", "alleleId": 177262, "preferredName": "NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166811", "RCV": [ "RCV000283445", "RCV000402667", "RCV000723774", "RCV000764913", "RCV001195485", "RCV002514944", "RCV001272551", "RCV003474806" ], "variationId": 166811 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73466722-G-A", "id": "10-73466722-G-A", "variant": "10:73466722 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73466722G>A?assembly=hg19", "id": "chr10:g.73466722G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71706965G>A?assembly=hg38", "id": "chr10:g.71706965G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201053044", "rs": 201053044 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73466722-G-A?dataset=gnomad_r2_1", "id": "10-73466722-G-A", "variant": "10:73466722 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71706965-G-A?dataset=gnomad_r3", "id": "10-71706965-G-A", "variant": "10:71706965 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71706965-G-A?dataset=gnomad_r4", "id": "10-71706965-G-A", "variant": "10:71706965 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71706965, "referenceAllele": "G", "start": 71706964 } ], "hgvs": [ "NC_000010.11:g.71706965G>A", "CM000672.2:g.71706965G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73466722, "referenceAllele": "G", "start": 73466721 } ], "hgvs": [ "NC_000010.10:g.73466722G>A", "CM000672.1:g.73466722G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73136728, "referenceAllele": "G", "start": 73136727 } ], "hgvs": [ "NC_000010.9:g.73136728G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 315019, "referenceAllele": "G", "start": 315018 } ], "hgvs": [ "NG_008835.1:g.315019G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Val1008Met", "hgvsWellDefined": "ENSP00000224721.9:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3022G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3022G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Val1008Met" }, "RefSeq": { "hgvs": "NP_071407.4:p.Val1008Met" } } } }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Val1008Met", "hgvsWellDefined": "ENSP00000381789.5:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "A", "end": 3022, "referenceAllele": "G", "start": 3021 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.4:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000388894.3:p.Val1008Met", "hgvsWellDefined": "ENSP00000388894.3:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS755918" }, { "coordinates": [ { "allele": "A", "end": 2453, "referenceAllele": "G", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.8:c.2453G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756880" }, { "coordinates": [ { "allele": "A", "end": 3427, "referenceAllele": "G", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3037G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Val1013Met", "hgvsWellDefined": "ENSP00000224721.8:p.Val1013Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 3409, "referenceAllele": "G", "start": 3408 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000299366.11:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000299366.8:p.Val1008Met", "hgvsWellDefined": "ENSP00000299366.8:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS254714" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Val1008Met", "hgvsWellDefined": "ENSP00000381789.5:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "A", "end": 1797, "referenceAllele": "G", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.3:c.1797G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS296989" }, { "coordinates": [ { "allele": "A", "end": 2453, "referenceAllele": "G", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.7:c.2453G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310034" }, { "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Val1008Met", "hgvsWellDefined": "ENSP00000482036.2:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3022G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Val1008Met", "hgvsWellDefined": "ENSP00000483211.1:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826092639", "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Val1008Met", "hgvsWellDefined": "NP_001165401.1:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA2826095473", "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.1:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Val1008Met", "hgvsWellDefined": "NP_001165402.1:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS015392" }, { "@id": "http://reg.genome.network/allele/PA233644", "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Val1008Met", "hgvsWellDefined": "NP_071407.4:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Val1073Met", "hgvsWellDefined": "XP_006718003.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 3394, "referenceAllele": "G", "start": 3393 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3151G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Val1051Met", "hgvsWellDefined": "XP_006718005.1:p.Val1051Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Val1073Met", "hgvsWellDefined": "XP_011538341.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 3454, "referenceAllele": "G", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3211G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Val1071Met", "hgvsWellDefined": "XP_011538342.1:p.Val1071Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3157G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Val1053Met", "hgvsWellDefined": "XP_011538343.1:p.Val1053Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Val1073Met", "hgvsWellDefined": "XP_011538344.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Val1073Met", "hgvsWellDefined": "XP_011538345.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "G", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3082G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Val1028Met", "hgvsWellDefined": "XP_011538346.1:p.Val1028Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Val1073Met", "hgvsWellDefined": "XP_011538347.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "G", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.2677G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Val893Met", "hgvsWellDefined": "XP_011538348.1:p.Val893Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2035G>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Val679Met", "hgvsWellDefined": "XP_011538349.1:p.Val679Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Val1073Met", "hgvsWellDefined": "XP_011538350.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Val1073Met", "hgvsWellDefined": "XP_011538351.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Val1073Met", "hgvsWellDefined": "XP_011538352.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Val1073Met", "hgvsWellDefined": "XP_011538353.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3217G>A" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Val1073Met", "hgvsWellDefined": "XP_011538355.1:p.Val1073Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "A", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540054.1:c.3157G>A" ], "proteinEffect": { "hgvs": "XP_011538356.1:p.Val1053Met", "hgvsWellDefined": "XP_011538356.1:p.Val1053Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS107004" }, { "coordinates": [ { "allele": "A", "end": 3460, "referenceAllele": "G", "start": 3459 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.3460G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 82, "endIntronDirection": "+", "endIntronOffset": 2041, "referenceAllele": "C", "start": 82, "startIntronDirection": "+", "startIntronOffset": 2040 } ], "hgvs": [ "XR_946052.1:n.82+2041C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139640" }, { "@id": "http://reg.genome.network/allele/PA2826092639", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Val1008Met", "hgvsWellDefined": "NP_001165401.1:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA2826095473", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.2:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Val1008Met", "hgvsWellDefined": "NP_001165402.1:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS678724" }, { "@id": "http://reg.genome.network/allele/PA233644", "coordinates": [ { "allele": "A", "end": 3426, "referenceAllele": "G", "start": 3425 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3022G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Val1008Met", "hgvsWellDefined": "NP_071407.4:p.Val1008Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3022G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.3022G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Val1008Met" }, "RefSeq": { "hgvs": "NP_071407.4:p.Val1008Met" } } } } ], "type": "nucleotide" }