{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA175535", "communityStandardTitle": [ "NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM6066447" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175008[alleleid]", "alleleId": 175008, "preferredName": "NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162957", "RCV": [ "RCV000150331", "RCV001067382", "RCV001826807" ], "variationId": 162957 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73572631-G-A", "id": "10-73572631-G-A", "variant": "10:73572631 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73572631G>A?assembly=hg19", "id": "chr10:g.73572631G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71812874G>A?assembly=hg38", "id": "chr10:g.71812874G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374156784", "rs": 374156784 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73572631-G-A?dataset=gnomad_r2_1", "id": "10-73572631-G-A", "variant": "10:73572631 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71812874-G-A?dataset=gnomad_r3", "id": "10-71812874-G-A", "variant": "10:71812874 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71812874-G-A?dataset=gnomad_r4", "id": "10-71812874-G-A", "variant": "10:71812874 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 71812874, "referenceAllele": "G", "start": 71812873 } ], "hgvs": [ "NC_000010.11:g.71812874G>A", "CM000672.2:g.71812874G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73572631, "referenceAllele": "G", "start": 73572630 } ], "hgvs": [ "NC_000010.10:g.73572631G>A", "CM000672.1:g.73572631G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 73242637, "referenceAllele": "G", "start": 73242636 } ], "hgvs": [ "NC_000010.9:g.73242637G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 420928, "referenceAllele": "G", "start": 420927 } ], "hgvs": [ "NG_008835.1:g.420928G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 10021, "referenceAllele": "G", "start": 10020 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.9617G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Arg3206His", "hgvsWellDefined": "ENSP00000224721.9:p.Arg3206His" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.9617G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.9617G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg3206His" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg3206His" } } } }, { "coordinates": [ { "allele": "A", "end": 3550, "referenceAllele": "G", "start": 3549 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000642965.1:c.3550G>A" ], "proteinEffect": { "hgvs": "ENSP00000495222.1:n.3550G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767016" }, { "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000647092.1:c.3214G>A" ], "proteinEffect": { "hgvs": "ENSP00000495176.1:n.3214G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769228" }, { "coordinates": [ { "allele": "A", "end": 10022, "referenceAllele": "G", "start": 10021 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.9632G>A" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Arg3211His", "hgvsWellDefined": "ENSP00000224721.8:p.Arg3211His" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398788.4:c.2897G>A" ], "proteinEffect": { "hgvs": "ENSP00000381768.3:p.Arg966His", "hgvsWellDefined": "ENSP00000381768.3:p.Arg966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS278419" }, { "coordinates": [ { "allele": "A", "end": 3153, "referenceAllele": "G", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000475158.1:n.3153G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316502" }, { "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000619887.4:c.2897G>A" ], "proteinEffect": { "hgvs": "ENSP00000478374.1:p.Arg966His", "hgvsWellDefined": "ENSP00000478374.1:p.Arg966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS404567" }, { "coordinates": [ { "allele": "A", "end": 10007, "referenceAllele": "G", "start": 10006 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.9617G>A" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Arg3206His", "hgvsWellDefined": "ENSP00000483211.1:p.Arg3206His" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826097920", "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171933.1:c.2897G>A" ], "proteinEffect": { "hgvs": "NP_001165404.1:p.Arg966His", "hgvsWellDefined": "NP_001165404.1:p.Arg966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015394" }, { "@id": "http://reg.genome.network/allele/PA915992212", "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "G", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171934.1:c.2897G>A" ], "proteinEffect": { "hgvs": "NP_001165405.1:p.Arg966His", "hgvsWellDefined": "NP_001165405.1:p.Arg966His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015395" }, { "@id": "http://reg.genome.network/allele/PA2826100526", "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171935.1:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001165406.1:p.Arg103His", "hgvsWellDefined": "NP_001165406.1:p.Arg103His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015396" }, { "@id": "http://reg.genome.network/allele/PA2826101197", "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171936.1:c.308G>A" ], "proteinEffect": { "hgvs": "NP_001165407.1:p.Arg103His", "hgvsWellDefined": "NP_001165407.1:p.Arg103His" }, "referenceSequence": "http://reg.genome.network/refseq/RS015397" }, { "@id": "http://reg.genome.network/allele/PA175536", "coordinates": [ { "allele": "A", "end": 10007, "referenceAllele": "G", "start": 10006 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.9617G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg3206His", "hgvsWellDefined": "NP_071407.4:p.Arg3206His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 10055, "referenceAllele": "G", "start": 10054 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.9812G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Arg3271His", "hgvsWellDefined": "XP_006718003.1:p.Arg3271His" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 9989, "referenceAllele": "G", "start": 9988 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.9746G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Arg3249His", "hgvsWellDefined": "XP_006718005.1:p.Arg3249His" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 10052, "referenceAllele": "G", "start": 10051 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.9809G>A" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Arg3270His", "hgvsWellDefined": "XP_011538341.1:p.Arg3270His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "A", "end": 10049, "referenceAllele": "G", "start": 10048 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.9806G>A" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Arg3269His", "hgvsWellDefined": "XP_011538342.1:p.Arg3269His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "A", "end": 10007, "referenceAllele": "G", "start": 10006 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.9752G>A" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Arg3251His", "hgvsWellDefined": "XP_011538343.1:p.Arg3251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "A", "end": 9965, "referenceAllele": "G", "start": 9964 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.9722G>A" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Arg3241His", "hgvsWellDefined": "XP_011538344.1:p.Arg3241His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "A", "end": 10055, "referenceAllele": "G", "start": 10054 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.9812G>A" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Arg3271His", "hgvsWellDefined": "XP_011538345.1:p.Arg3271His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "A", "end": 9739, "referenceAllele": "G", "start": 9738 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.9677G>A" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Arg3226His", "hgvsWellDefined": "XP_011538346.1:p.Arg3226His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "A", "end": 10055, "referenceAllele": "G", "start": 10054 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.9812G>A" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Arg3271His", "hgvsWellDefined": "XP_011538347.1:p.Arg3271His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "A", "end": 9477, "referenceAllele": "G", "start": 9476 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.9272G>A" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Arg3091His", "hgvsWellDefined": "XP_011538348.1:p.Arg3091His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 8645, "referenceAllele": "G", "start": 8644 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.8630G>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Arg2877His", "hgvsWellDefined": "XP_011538349.1:p.Arg2877His" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "A", "end": 6278, "referenceAllele": "G", "start": 6277 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.6140G>A" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Arg2047His", "hgvsWellDefined": "XP_011538354.1:p.Arg2047His" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "@id": "http://reg.genome.network/allele/PA175536", "coordinates": [ { "allele": "A", "end": 10021, "referenceAllele": "G", "start": 10020 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.9617G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg3206His", "hgvsWellDefined": "NP_071407.4:p.Arg3206His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.9617G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.9617G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg3206His" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg3206His" } } } } ], "type": "nucleotide" }