ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71725422C>T , CM000672.2:g.71725422C>T | GRCh38 |
| NC_000010.10:g.73485179C>T , CM000672.1:g.73485179C>T | GRCh37 |
| NC_000010.9:g.73155185C>T | NCBI36 |
| NG_008835.1:g.333476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3481C>T (CDH23) MANE Select | ENSP00000224721.9:p.Arg1161Ter | |
| ENST00000398809.9:c.3478C>T (CDH23) | ENSP00000381789.5:p.Arg1160Ter | |
| ENST00000224721.10:c.3496C>T (CDH23) | ENSP00000224721.8:p.Arg1166Ter | |
| ENST00000398786.2:c.-5-9080G>A (C10orf105) | ENSP00000381766.3:n.-5-9080G>A | |
| ENST00000398792.3:n.271+1317C>T (CDH23) | ||
| ENST00000398809.8:c.3478C>T (CDH23) | ENSP00000381789.5:p.Arg1160Ter | |
| ENST00000616684.4:c.3481C>T (CDH23) | ENSP00000482036.2:p.Arg1161Ter | |
| ENST00000622827.4:c.3481C>T (CDH23) | ENSP00000483211.1:p.Arg1161Ter | |
| NM_001168390.1:c.-5-9080G>A (C10orf105) | NP_001161862.1:n.-5-9080G>A | |
| NM_001171930.1:c.3481C>T (CDH23) | NP_001165401.1:p.Arg1161Ter | |
| NM_022124.5:c.3481C>T (CDH23) | NP_071407.4:p.Arg1161Ter | |
| XM_006717940.2:c.3676C>T (CDH23) | XP_006718003.1:p.Arg1226Ter | |
| XM_006717942.2:c.3610C>T (CDH23) | XP_006718005.1:p.Arg1204Ter | |
| XM_011539810.1:c.-6+985G>A (C10orf105) | XP_011538112.1:n.-6+985G>A | |
| XM_011540039.1:c.3676C>T (CDH23) | XP_011538341.1:p.Arg1226Ter | |
| XM_011540040.1:c.3670C>T (CDH23) | XP_011538342.1:p.Arg1224Ter | |
| XM_011540041.1:c.3616C>T (CDH23) | XP_011538343.1:p.Arg1206Ter | |
| XM_011540042.1:c.3676C>T (CDH23) | XP_011538344.1:p.Arg1226Ter | |
| XM_011540043.1:c.3676C>T (CDH23) | XP_011538345.1:p.Arg1226Ter | |
| XM_011540044.1:c.3541C>T (CDH23) | XP_011538346.1:p.Arg1181Ter | |
| XM_011540045.1:c.3676C>T (CDH23) | XP_011538347.1:p.Arg1226Ter | |
| XM_011540046.1:c.3136C>T (CDH23) | XP_011538348.1:p.Arg1046Ter | |
| XM_011540047.1:c.2494C>T (CDH23) | XP_011538349.1:p.Arg832Ter | |
| XM_011540048.1:c.3676C>T (CDH23) | XP_011538350.1:p.Arg1226Ter | |
| XM_011540049.1:c.3676C>T (CDH23) | XP_011538351.1:p.Arg1226Ter | |
| XM_011540050.1:c.3676C>T (CDH23) | XP_011538352.1:p.Arg1226Ter | |
| XM_011540051.1:c.3676C>T (CDH23) | XP_011538353.1:p.Arg1226Ter | |
| XM_011540052.1:c.4C>T (CDH23) | XP_011538354.1:p.Arg2Ter | |
| XM_011540053.1:c.3676C>T (CDH23) | XP_011538355.1:p.Arg1226Ter | |
| XR_945796.1:n.3919C>T (CDH23) | ||
| NM_001168390.2:c.-5-9080G>A (C10orf105) | NP_001161862.1:n.-5-9080G>A | |
| NM_001171930.2:c.3481C>T (CDH23) | NP_001165401.1:p.Arg1161Ter | |
| NM_022124.6:c.3481C>T (CDH23) MANE Select | NP_071407.4:p.Arg1161Ter |