{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA137590", "communityStandardTitle": [ "NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55210[alleleid]", "alleleId": 55210, "preferredName": "NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46045", "RCV": [ "RCV000039281", "RCV000725935", "RCV001108161", "RCV001108162", "RCV001276044" ], "variationId": 46045 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73566027-G-C", "id": "10-73566027-G-C", "variant": "10:73566027 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73566027G>C?assembly=hg19", "id": "chr10:g.73566027G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71806270G>C?assembly=hg38", "id": "chr10:g.71806270G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/142857685", "rs": 142857685 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73566027-G-C?dataset=gnomad_r2_1", "id": "10-73566027-G-C", "variant": "10:73566027 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71806270-G-C?dataset=gnomad_r3", "id": "10-71806270-G-C", "variant": "10:71806270 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71806270-G-C?dataset=gnomad_r4", "id": "10-71806270-G-C", "variant": "10:71806270 G / C" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 71806270, "referenceAllele": "G", "start": 71806269 } ], "hgvs": [ "NC_000010.11:g.71806270G>C", "CM000672.2:g.71806270G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 73566027, "referenceAllele": "G", "start": 73566026 } ], "hgvs": [ "NC_000010.10:g.73566027G>C", "CM000672.1:g.73566027G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "C", "end": 73236033, "referenceAllele": "G", "start": 73236032 } ], "hgvs": [ "NC_000010.9:g.73236033G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 414324, "referenceAllele": "G", "start": 414323 } ], "hgvs": [ "NG_008835.1:g.414324G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 8571, "referenceAllele": "G", "start": 8570 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.8167G>C" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Val2723Leu", "hgvsWellDefined": "ENSP00000224721.9:p.Val2723Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.8167G>C" }, "RefSeq": { "hgvs": "NM_022124.6:c.8167G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Val2723Leu" }, "RefSeq": { "hgvs": "NP_071407.4:p.Val2723Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 2100, "referenceAllele": "G", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000642965.1:c.2100G>C" ], "proteinEffect": { "hgvs": "ENSP00000495222.1:n.2100G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767016" }, { "coordinates": [ { "allele": "C", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000647092.1:c.1764G>C" ], "proteinEffect": { "hgvs": "ENSP00000495176.1:n.1764G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS769228" }, { "coordinates": [ { "allele": "C", "end": 8572, "referenceAllele": "G", "start": 8571 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.8182G>C" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Val2728Leu", "hgvsWellDefined": "ENSP00000224721.8:p.Val2728Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "C", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398788.4:c.1447G>C" ], "proteinEffect": { "hgvs": "ENSP00000381768.3:p.Val483Leu", "hgvsWellDefined": "ENSP00000381768.3:p.Val483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278419" }, { "coordinates": [ { "allele": "C", "end": 1703, "referenceAllele": "G", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000475158.1:n.1703G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS316502" }, { "coordinates": [ { "allele": "C", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000619887.4:c.1447G>C" ], "proteinEffect": { "hgvs": "ENSP00000478374.1:p.Val483Leu", "hgvsWellDefined": "ENSP00000478374.1:p.Val483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS404567" }, { "coordinates": [ { "allele": "C", "end": 8557, "referenceAllele": "G", "start": 8556 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.8167G>C" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Val2723Leu", "hgvsWellDefined": "ENSP00000483211.1:p.Val2723Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826097025", "coordinates": [ { "allele": "C", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171933.1:c.1447G>C" ], "proteinEffect": { "hgvs": "NP_001165404.1:p.Val483Leu", "hgvsWellDefined": "NP_001165404.1:p.Val483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015394" }, { "@id": "http://reg.genome.network/allele/PA915992021", "coordinates": [ { "allele": "C", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171934.1:c.1447G>C" ], "proteinEffect": { "hgvs": "NP_001165405.1:p.Val483Leu", "hgvsWellDefined": "NP_001165405.1:p.Val483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015395" }, { "@id": "http://reg.genome.network/allele/PA137591", "coordinates": [ { "allele": "C", "end": 8557, "referenceAllele": "G", "start": 8556 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.8167G>C" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Val2723Leu", "hgvsWellDefined": "NP_071407.4:p.Val2723Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "C", "end": 8605, "referenceAllele": "G", "start": 8604 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.8362G>C" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Val2788Leu", "hgvsWellDefined": "XP_006718003.1:p.Val2788Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "C", "end": 8539, "referenceAllele": "G", "start": 8538 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.8296G>C" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Val2766Leu", "hgvsWellDefined": "XP_006718005.1:p.Val2766Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "C", "end": 8602, "referenceAllele": "G", "start": 8601 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.8359G>C" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Val2787Leu", "hgvsWellDefined": "XP_011538341.1:p.Val2787Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "C", "end": 8599, "referenceAllele": "G", "start": 8598 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.8356G>C" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Val2786Leu", "hgvsWellDefined": "XP_011538342.1:p.Val2786Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "C", "end": 8557, "referenceAllele": "G", "start": 8556 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.8302G>C" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Val2768Leu", "hgvsWellDefined": "XP_011538343.1:p.Val2768Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "C", "end": 8515, "referenceAllele": "G", "start": 8514 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.8272G>C" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Val2758Leu", "hgvsWellDefined": "XP_011538344.1:p.Val2758Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "C", "end": 8605, "referenceAllele": "G", "start": 8604 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.8362G>C" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Val2788Leu", "hgvsWellDefined": "XP_011538345.1:p.Val2788Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "C", "end": 8289, "referenceAllele": "G", "start": 8288 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.8227G>C" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Val2743Leu", "hgvsWellDefined": "XP_011538346.1:p.Val2743Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "C", "end": 8605, "referenceAllele": "G", "start": 8604 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.8362G>C" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Val2788Leu", "hgvsWellDefined": "XP_011538347.1:p.Val2788Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "C", "end": 8027, "referenceAllele": "G", "start": 8026 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.7822G>C" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Val2608Leu", "hgvsWellDefined": "XP_011538348.1:p.Val2608Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "C", "end": 7195, "referenceAllele": "G", "start": 7194 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.7180G>C" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Val2394Leu", "hgvsWellDefined": "XP_011538349.1:p.Val2394Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "C", "end": 4828, "referenceAllele": "G", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.4690G>C" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Val1564Leu", "hgvsWellDefined": "XP_011538354.1:p.Val1564Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "@id": "http://reg.genome.network/allele/PA137591", "coordinates": [ { "allele": "C", "end": 8571, "referenceAllele": "G", "start": 8570 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.8167G>C" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Val2723Leu", "hgvsWellDefined": "NP_071407.4:p.Val2723Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.8167G>C" }, "RefSeq": { "hgvs": "NM_022124.6:c.8167G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Val2723Leu" }, "RefSeq": { "hgvs": "NP_071407.4:p.Val2723Leu" } } } } ], "type": "nucleotide" }