Canonical Allele Identifier: CA377159815
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71800644C>G , CM000672.2:g.71800644C>G GRCh38
NC_000010.10:g.73560401C>G , CM000672.1:g.73560401C>G GRCh37
NC_000010.9:g.73230407C>G NCBI36
NG_008835.1:g.408698C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7371C>G MANE Select ENSP00000224721.9:p.Ile2457Met
ENST00000642965.1:c.1304C>G ENSP00000495222.1:n.1304C>G
ENST00000647092.1:c.968C>G ENSP00000495176.1:n.968C>G
ENST00000224721.10:c.7386C>G ENSP00000224721.8:p.Ile2462Met
ENST00000398788.4:c.651C>G ENSP00000381768.3:p.Ile217Met
ENST00000475158.1:n.907C>G
ENST00000619887.4:c.651C>G ENSP00000478374.1:p.Ile217Met
ENST00000622827.4:c.7371C>G ENSP00000483211.1:p.Ile2457Met
NM_001171933.1:c.651C>G NP_001165404.1:p.Ile217Met
NM_001171934.1:c.651C>G NP_001165405.1:p.Ile217Met
NM_022124.5:c.7371C>G NP_071407.4:p.Ile2457Met
XM_006717940.2:c.7566C>G XP_006718003.1:p.Ile2522Met
XM_006717942.2:c.7500C>G XP_006718005.1:p.Ile2500Met
XM_011540039.1:c.7563C>G XP_011538341.1:p.Ile2521Met
XM_011540040.1:c.7560C>G XP_011538342.1:p.Ile2520Met
XM_011540041.1:c.7506C>G XP_011538343.1:p.Ile2502Met
XM_011540042.1:c.7476C>G XP_011538344.1:p.Ile2492Met
XM_011540043.1:c.7566C>G XP_011538345.1:p.Ile2522Met
XM_011540044.1:c.7431C>G XP_011538346.1:p.Ile2477Met
XM_011540045.1:c.7566C>G XP_011538347.1:p.Ile2522Met
XM_011540046.1:c.7026C>G XP_011538348.1:p.Ile2342Met
XM_011540047.1:c.6384C>G XP_011538349.1:p.Ile2128Met
XM_011540052.1:c.3894C>G XP_011538354.1:p.Ile1298Met
NM_022124.6:c.7371C>G MANE Select NP_071407.4:p.Ile2457Met