Revel Score:
ENST00000398860
0.275
ENST00000398855
0.275
ENST00000224721 (MANE Select)
0.275
ENST00000398792
0.275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71730538G>C , CM000672.2:g.71730538G>C | GRCh38 |
| NC_000010.10:g.73490295G>C , CM000672.1:g.73490295G>C | GRCh37 |
| NC_000010.9:g.73160301G>C | NCBI36 |
| NG_008835.1:g.338592G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.3649G>C (CDH23) MANE Select | ENSP00000224721.9:p.Gly1217Arg | |
| ENST00000398809.9:c.3646G>C (CDH23) | ENSP00000381789.5:p.Gly1216Arg | |
| ENST00000224721.10:c.3664G>C (CDH23) | ENSP00000224721.8:p.Gly1222Arg | |
| ENST00000398786.2:c.-6+7190C>G (C10orf105) | ENSP00000381766.3:n.-6+7190C>G | |
| ENST00000398792.3:n.341G>C (CDH23) | ||
| ENST00000398809.8:c.3646G>C (CDH23) | ENSP00000381789.5:p.Gly1216Arg | |
| ENST00000616684.4:c.3649G>C (CDH23) | ENSP00000482036.2:p.Gly1217Arg | |
| ENST00000622827.4:c.3649G>C (CDH23) | ENSP00000483211.1:p.Gly1217Arg | |
| NM_001168390.1:c.-6+7190C>G (C10orf105) | NP_001161862.1:n.-6+7190C>G | |
| NM_001171930.1:c.3649G>C (CDH23) | NP_001165401.1:p.Gly1217Arg | |
| NM_022124.5:c.3649G>C (CDH23) | NP_071407.4:p.Gly1217Arg | |
| XM_006717940.2:c.3844G>C (CDH23) | XP_006718003.1:p.Gly1282Arg | |
| XM_006717942.2:c.3778G>C (CDH23) | XP_006718005.1:p.Gly1260Arg | |
| XM_011540039.1:c.3844G>C (CDH23) | XP_011538341.1:p.Gly1282Arg | |
| XM_011540040.1:c.3838G>C (CDH23) | XP_011538342.1:p.Gly1280Arg | |
| XM_011540041.1:c.3784G>C (CDH23) | XP_011538343.1:p.Gly1262Arg | |
| XM_011540042.1:c.3844G>C (CDH23) | XP_011538344.1:p.Gly1282Arg | |
| XM_011540043.1:c.3844G>C (CDH23) | XP_011538345.1:p.Gly1282Arg | |
| XM_011540044.1:c.3709G>C (CDH23) | XP_011538346.1:p.Gly1237Arg | |
| XM_011540045.1:c.3844G>C (CDH23) | XP_011538347.1:p.Gly1282Arg | |
| XM_011540046.1:c.3304G>C (CDH23) | XP_011538348.1:p.Gly1102Arg | |
| XM_011540047.1:c.2662G>C (CDH23) | XP_011538349.1:p.Gly888Arg | |
| XM_011540048.1:c.3844G>C (CDH23) | XP_011538350.1:p.Gly1282Arg | |
| XM_011540049.1:c.3844G>C (CDH23) | XP_011538351.1:p.Gly1282Arg | |
| XM_011540050.1:c.3844G>C (CDH23) | XP_011538352.1:p.Gly1282Arg | |
| XM_011540051.1:c.3844G>C (CDH23) | XP_011538353.1:p.Gly1282Arg | |
| XM_011540052.1:c.172G>C (CDH23) | XP_011538354.1:p.Gly58Arg | |
| XM_011540053.1:c.3844G>C (CDH23) | XP_011538355.1:p.Gly1282Arg | |
| XR_945796.1:n.4087G>C (CDH23) | ||
| NM_001168390.2:c.-6+7190C>G (C10orf105) | NP_001161862.1:n.-6+7190C>G | |
| NM_001171930.2:c.3649G>C (CDH23) | NP_001165401.1:p.Gly1217Arg | |
| NM_022124.6:c.3649G>C (CDH23) MANE Select | NP_071407.4:p.Gly1217Arg |