{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377159099", "communityStandardTitle": [ "NM_022124.6(CDH23):c.4244G>T (p.Ser1415Ile)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73498289G>T?assembly=hg19", "id": "chr10:g.73498289G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71738532G>T?assembly=hg38", "id": "chr10:g.71738532G>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 71738532, "referenceAllele": "G", "start": 71738531 } ], "hgvs": [ "NC_000010.11:g.71738532G>T", "CM000672.2:g.71738532G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73498289, "referenceAllele": "G", "start": 73498288 } ], "hgvs": [ "NC_000010.10:g.73498289G>T", "CM000672.1:g.73498289G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73168295, "referenceAllele": "G", "start": 73168294 } ], "hgvs": [ "NC_000010.9:g.73168295G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 346586, "referenceAllele": "G", "start": 346585 } ], "hgvs": [ "NG_008835.1:g.346586G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4648, "referenceAllele": "G", "start": 4647 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.4244G>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Ser1415Ile", "hgvsWellDefined": "ENSP00000224721.9:p.Ser1415Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.4244G>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.4244G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Ser1415Ile" }, "RefSeq": { "hgvs": "NP_071407.4:p.Ser1415Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 4649, "referenceAllele": "G", "start": 4648 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.4259G>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Ser1420Ile", "hgvsWellDefined": "ENSP00000224721.8:p.Ser1420Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.933G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "T", "end": 4634, "referenceAllele": "G", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.4244G>T" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Ser1415Ile", "hgvsWellDefined": "ENSP00000483211.1:p.Ser1415Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "T", "end": 4634, "referenceAllele": "G", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.4244G>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Ser1415Ile", "hgvsWellDefined": "NP_071407.4:p.Ser1415Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Ser1480Ile", "hgvsWellDefined": "XP_006718003.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "T", "end": 4616, "referenceAllele": "G", "start": 4615 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.4373G>T" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Ser1458Ile", "hgvsWellDefined": "XP_006718005.1:p.Ser1458Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "T", "end": 4679, "referenceAllele": "G", "start": 4678 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.4436G>T" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Ser1479Ile", "hgvsWellDefined": "XP_011538341.1:p.Ser1479Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "T", "end": 4676, "referenceAllele": "G", "start": 4675 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.4433G>T" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Ser1478Ile", "hgvsWellDefined": "XP_011538342.1:p.Ser1478Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "T", "end": 4634, "referenceAllele": "G", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.4379G>T" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Ser1460Ile", "hgvsWellDefined": "XP_011538343.1:p.Ser1460Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538344.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538345.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "T", "end": 4366, "referenceAllele": "G", "start": 4365 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.4304G>T" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Ser1435Ile", "hgvsWellDefined": "XP_011538346.1:p.Ser1435Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538347.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "G", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3899G>T" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Ser1300Ile", "hgvsWellDefined": "XP_011538348.1:p.Ser1300Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "T", "end": 3272, "referenceAllele": "G", "start": 3271 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.3257G>T" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Ser1086Ile", "hgvsWellDefined": "XP_011538349.1:p.Ser1086Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538350.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538351.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538352.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538353.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.767G>T" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Ser256Ile", "hgvsWellDefined": "XP_011538354.1:p.Ser256Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.4439G>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Ser1480Ile", "hgvsWellDefined": "XP_011538355.1:p.Ser1480Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 4682, "referenceAllele": "G", "start": 4681 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4682G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "T", "end": 4648, "referenceAllele": "G", "start": 4647 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.4244G>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Ser1415Ile", "hgvsWellDefined": "NP_071407.4:p.Ser1415Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.4244G>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.4244G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Ser1415Ile" }, "RefSeq": { "hgvs": "NP_071407.4:p.Ser1415Ile" } } } } ], "type": "nucleotide" }