Canonical Allele Identifier: CA377159823
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1429606807

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71800646A>G , CM000672.2:g.71800646A>G GRCh38
NC_000010.10:g.73560403A>G , CM000672.1:g.73560403A>G GRCh37
NC_000010.9:g.73230409A>G NCBI36
NG_008835.1:g.408700A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7373A>G MANE Select ENSP00000224721.9:p.Tyr2458Cys
ENST00000642965.1:c.1306A>G ENSP00000495222.1:n.1306A>G
ENST00000647092.1:c.970A>G ENSP00000495176.1:n.970A>G
ENST00000224721.10:c.7388A>G ENSP00000224721.8:p.Tyr2463Cys
ENST00000398788.4:c.653A>G ENSP00000381768.3:p.Tyr218Cys
ENST00000475158.1:n.909A>G
ENST00000619887.4:c.653A>G ENSP00000478374.1:p.Tyr218Cys
ENST00000622827.4:c.7373A>G ENSP00000483211.1:p.Tyr2458Cys
NM_001171933.1:c.653A>G NP_001165404.1:p.Tyr218Cys
NM_001171934.1:c.653A>G NP_001165405.1:p.Tyr218Cys
NM_022124.5:c.7373A>G NP_071407.4:p.Tyr2458Cys
XM_006717940.2:c.7568A>G XP_006718003.1:p.Tyr2523Cys
XM_006717942.2:c.7502A>G XP_006718005.1:p.Tyr2501Cys
XM_011540039.1:c.7565A>G XP_011538341.1:p.Tyr2522Cys
XM_011540040.1:c.7562A>G XP_011538342.1:p.Tyr2521Cys
XM_011540041.1:c.7508A>G XP_011538343.1:p.Tyr2503Cys
XM_011540042.1:c.7478A>G XP_011538344.1:p.Tyr2493Cys
XM_011540043.1:c.7568A>G XP_011538345.1:p.Tyr2523Cys
XM_011540044.1:c.7433A>G XP_011538346.1:p.Tyr2478Cys
XM_011540045.1:c.7568A>G XP_011538347.1:p.Tyr2523Cys
XM_011540046.1:c.7028A>G XP_011538348.1:p.Tyr2343Cys
XM_011540047.1:c.6386A>G XP_011538349.1:p.Tyr2129Cys
XM_011540052.1:c.3896A>G XP_011538354.1:p.Tyr1299Cys
NM_022124.6:c.7373A>G MANE Select NP_071407.4:p.Tyr2458Cys