Canonical Allele Identifier: CA377159279
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799530C>G , CM000672.2:g.71799530C>G GRCh38
NC_000010.10:g.73559287C>G , CM000672.1:g.73559287C>G GRCh37
NC_000010.9:g.73229293C>G NCBI36
NG_008835.1:g.407584C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7263C>G MANE Select ENSP00000224721.9:p.Ile2421Met
ENST00000642965.1:c.1196C>G ENSP00000495222.1:n.1196C>G
ENST00000647092.1:c.860C>G ENSP00000495176.1:n.860C>G
ENST00000224721.10:c.7278C>G ENSP00000224721.8:p.Ile2426Met
ENST00000398788.4:c.543C>G ENSP00000381768.3:p.Ile181Met
ENST00000475158.1:n.799C>G
ENST00000619887.4:c.543C>G ENSP00000478374.1:p.Ile181Met
ENST00000622827.4:c.7263C>G ENSP00000483211.1:p.Ile2421Met
NM_001171933.1:c.543C>G NP_001165404.1:p.Ile181Met
NM_001171934.1:c.543C>G NP_001165405.1:p.Ile181Met
NM_022124.5:c.7263C>G NP_071407.4:p.Ile2421Met
XM_006717940.2:c.7458C>G XP_006718003.1:p.Ile2486Met
XM_006717942.2:c.7392C>G XP_006718005.1:p.Ile2464Met
XM_011540039.1:c.7455C>G XP_011538341.1:p.Ile2485Met
XM_011540040.1:c.7452C>G XP_011538342.1:p.Ile2484Met
XM_011540041.1:c.7398C>G XP_011538343.1:p.Ile2466Met
XM_011540042.1:c.7368C>G XP_011538344.1:p.Ile2456Met
XM_011540043.1:c.7458C>G XP_011538345.1:p.Ile2486Met
XM_011540044.1:c.7323C>G XP_011538346.1:p.Ile2441Met
XM_011540045.1:c.7458C>G XP_011538347.1:p.Ile2486Met
XM_011540046.1:c.6918C>G XP_011538348.1:p.Ile2306Met
XM_011540047.1:c.6276C>G XP_011538349.1:p.Ile2092Met
XM_011540052.1:c.3786C>G XP_011538354.1:p.Ile1262Met
NM_022124.6:c.7263C>G MANE Select NP_071407.4:p.Ile2421Met