{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253338", "communityStandardTitle": [ "NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19967[alleleid]", "alleleId": 19967, "preferredName": "NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4928", "RCV": [ "RCV000005211", "RCV001261012", "RCV001106128", "RCV001205177", "RCV002476931", "RCV001831515", "RCV003472978" ], "variationId": 4928 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-73330641-C-T", "id": "10-73330641-C-T", "variant": "10:73330641 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73330641C>T?assembly=hg19", "id": "chr10:g.73330641C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71570884C>T?assembly=hg38", "id": "chr10:g.71570884C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908354", "rs": 121908354 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-73330641-C-T?dataset=gnomad_r2_1", "id": "10-73330641-C-T", "variant": "10:73330641 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71570884-C-T?dataset=gnomad_r3", "id": "10-71570884-C-T", "variant": "10:71570884 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71570884-C-T?dataset=gnomad_r4", "id": "10-71570884-C-T", "variant": "10:71570884 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 71570884, "referenceAllele": "C", "start": 71570883 } ], "hgvs": [ "NC_000010.11:g.71570884C>T", "CM000672.2:g.71570884C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73330641, "referenceAllele": "C", "start": 73330640 } ], "hgvs": [ "NC_000010.10:g.73330641C>T", "CM000672.1:g.73330641C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73000647, "referenceAllele": "C", "start": 73000646 } ], "hgvs": [ "NC_000010.9:g.73000647C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 178938, "referenceAllele": "C", "start": 178937 } ], "hgvs": [ "NG_008835.1:g.178938C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Pro240Leu", "hgvsWellDefined": "ENSP00000224721.9:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.719C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.719C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Pro240Leu" }, "RefSeq": { "hgvs": "NP_071407.4:p.Pro240Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Pro240Leu", "hgvsWellDefined": "ENSP00000381789.5:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000442677.4:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000388894.3:p.Pro240Leu", "hgvsWellDefined": "ENSP00000388894.3:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS755918" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.8:c.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS756880" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000643732.1:n.495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767441" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000646131.1:c.383C>T" ], "proteinEffect": { "hgvs": "ENSP00000495098.1:p.Pro128Leu", "hgvsWellDefined": "ENSP00000495098.1:p.Pro128Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768716" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.734C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Pro245Leu", "hgvsWellDefined": "ENSP00000224721.8:p.Pro245Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000299366.11:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000299366.8:p.Pro240Leu", "hgvsWellDefined": "ENSP00000299366.8:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS254714" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Pro240Leu", "hgvsWellDefined": "ENSP00000381789.5:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398842.7:c.470C>T" ], "proteinEffect": { "hgvs": "ENSP00000381822.4:p.Pro157Leu", "hgvsWellDefined": "ENSP00000381822.4:p.Pro157Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS278441" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000461841.7:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000473454.2:p.Pro240Leu", "hgvsWellDefined": "ENSP00000473454.2:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS306262" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000466757.7:c.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310034" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Pro240Leu", "hgvsWellDefined": "ENSP00000482036.2:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.719C>T" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Pro240Leu", "hgvsWellDefined": "ENSP00000483211.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "@id": "http://reg.genome.network/allele/PA2826091211", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165401.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "@id": "http://reg.genome.network/allele/PA2826093716", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.1:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165402.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015392" }, { "@id": "http://reg.genome.network/allele/PA2826096066", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.1:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165403.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015393" }, { "@id": "http://reg.genome.network/allele/PA253339", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.719C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Pro240Leu", "hgvsWellDefined": "NP_071407.4:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "@id": "http://reg.genome.network/allele/PA916050897", "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.3:c.719C>T" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Pro240Leu", "hgvsWellDefined": "NP_443068.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS039836" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.854C>T" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Pro285Leu", "hgvsWellDefined": "XP_006718003.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.854C>T" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Pro285Leu", "hgvsWellDefined": "XP_006718005.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538341.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538342.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538343.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538344.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538345.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.719C>T" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Pro240Leu", "hgvsWellDefined": "XP_011538346.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538347.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.314C>T" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Pro105Leu", "hgvsWellDefined": "XP_011538348.1:p.Pro105Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538350.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538351.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538352.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538353.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538355.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540054.1:c.854C>T" ], "proteinEffect": { "hgvs": "XP_011538356.1:p.Pro285Leu", "hgvsWellDefined": "XP_011538356.1:p.Pro285Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS107004" }, { "coordinates": [ { "allele": "A", "end": 161, "endIntronDirection": "-", "endIntronOffset": 5749, "referenceAllele": "G", "start": 161, "startIntronDirection": "-", "startIntronOffset": 5750 } ], "hgvs": [ "XR_246128.2:n.162-5750G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS117117" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "C", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.1097C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "@id": "http://reg.genome.network/allele/PA2826091211", "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165401.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "@id": "http://reg.genome.network/allele/PA2826093716", "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171931.2:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165402.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165402.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678724" }, { "@id": "http://reg.genome.network/allele/PA253339", "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.719C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Pro240Leu", "hgvsWellDefined": "NP_071407.4:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.719C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.719C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Pro240Leu" }, "RefSeq": { "hgvs": "NP_071407.4:p.Pro240Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA916050897", "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_052836.4:c.719C>T" ], "proteinEffect": { "hgvs": "NP_443068.1:p.Pro240Leu", "hgvsWellDefined": "NP_443068.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS699386" }, { "@id": "http://reg.genome.network/allele/PA2826096066", "coordinates": [ { "allele": "T", "end": 1123, "referenceAllele": "C", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171932.2:c.719C>T" ], "proteinEffect": { "hgvs": "NP_001165403.1:p.Pro240Leu", "hgvsWellDefined": "NP_001165403.1:p.Pro240Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS713400" } ], "type": "nucleotide" }