Canonical Allele Identifier: CA377159921
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1589429497

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71800691T>C , CM000672.2:g.71800691T>C GRCh38
NC_000010.10:g.73560448T>C , CM000672.1:g.73560448T>C GRCh37
NC_000010.9:g.73230454T>C NCBI36
NG_008835.1:g.408745T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7418T>C MANE Select ENSP00000224721.9:p.Leu2473Pro
ENST00000642965.1:c.1351T>C ENSP00000495222.1:n.1351T>C
ENST00000647092.1:c.1015T>C ENSP00000495176.1:n.1015T>C
ENST00000224721.10:c.7433T>C ENSP00000224721.8:p.Leu2478Pro
ENST00000398788.4:c.698T>C ENSP00000381768.3:p.Leu233Pro
ENST00000475158.1:n.954T>C
ENST00000619887.4:c.698T>C ENSP00000478374.1:p.Leu233Pro
ENST00000622827.4:c.7418T>C ENSP00000483211.1:p.Leu2473Pro
NM_001171933.1:c.698T>C NP_001165404.1:p.Leu233Pro
NM_001171934.1:c.698T>C NP_001165405.1:p.Leu233Pro
NM_022124.5:c.7418T>C NP_071407.4:p.Leu2473Pro
XM_006717940.2:c.7613T>C XP_006718003.1:p.Leu2538Pro
XM_006717942.2:c.7547T>C XP_006718005.1:p.Leu2516Pro
XM_011540039.1:c.7610T>C XP_011538341.1:p.Leu2537Pro
XM_011540040.1:c.7607T>C XP_011538342.1:p.Leu2536Pro
XM_011540041.1:c.7553T>C XP_011538343.1:p.Leu2518Pro
XM_011540042.1:c.7523T>C XP_011538344.1:p.Leu2508Pro
XM_011540043.1:c.7613T>C XP_011538345.1:p.Leu2538Pro
XM_011540044.1:c.7478T>C XP_011538346.1:p.Leu2493Pro
XM_011540045.1:c.7613T>C XP_011538347.1:p.Leu2538Pro
XM_011540046.1:c.7073T>C XP_011538348.1:p.Leu2358Pro
XM_011540047.1:c.6431T>C XP_011538349.1:p.Leu2144Pro
XM_011540052.1:c.3941T>C XP_011538354.1:p.Leu1314Pro
NM_022124.6:c.7418T>C MANE Select NP_071407.4:p.Leu2473Pro