Canonical Allele Identifier: CA377159428
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799568T>A , CM000672.2:g.71799568T>A GRCh38
NC_000010.10:g.73559325T>A , CM000672.1:g.73559325T>A GRCh37
NC_000010.9:g.73229331T>A NCBI36
NG_008835.1:g.407622T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7301T>A MANE Select ENSP00000224721.9:p.Phe2434Tyr
ENST00000642965.1:c.1234T>A ENSP00000495222.1:n.1234T>A
ENST00000647092.1:c.898T>A ENSP00000495176.1:n.898T>A
ENST00000224721.10:c.7316T>A ENSP00000224721.8:p.Phe2439Tyr
ENST00000398788.4:c.581T>A ENSP00000381768.3:p.Phe194Tyr
ENST00000475158.1:n.837T>A
ENST00000619887.4:c.581T>A ENSP00000478374.1:p.Phe194Tyr
ENST00000622827.4:c.7301T>A ENSP00000483211.1:p.Phe2434Tyr
NM_001171933.1:c.581T>A NP_001165404.1:p.Phe194Tyr
NM_001171934.1:c.581T>A NP_001165405.1:p.Phe194Tyr
NM_022124.5:c.7301T>A NP_071407.4:p.Phe2434Tyr
XM_006717940.2:c.7496T>A XP_006718003.1:p.Phe2499Tyr
XM_006717942.2:c.7430T>A XP_006718005.1:p.Phe2477Tyr
XM_011540039.1:c.7493T>A XP_011538341.1:p.Phe2498Tyr
XM_011540040.1:c.7490T>A XP_011538342.1:p.Phe2497Tyr
XM_011540041.1:c.7436T>A XP_011538343.1:p.Phe2479Tyr
XM_011540042.1:c.7406T>A XP_011538344.1:p.Phe2469Tyr
XM_011540043.1:c.7496T>A XP_011538345.1:p.Phe2499Tyr
XM_011540044.1:c.7361T>A XP_011538346.1:p.Phe2454Tyr
XM_011540045.1:c.7496T>A XP_011538347.1:p.Phe2499Tyr
XM_011540046.1:c.6956T>A XP_011538348.1:p.Phe2319Tyr
XM_011540047.1:c.6314T>A XP_011538349.1:p.Phe2105Tyr
XM_011540052.1:c.3824T>A XP_011538354.1:p.Phe1275Tyr
NM_022124.6:c.7301T>A MANE Select NP_071407.4:p.Phe2434Tyr