Canonical Allele Identifier: CA377158131
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798503C>G , CM000672.2:g.71798503C>G GRCh38
NC_000010.10:g.73558260C>G , CM000672.1:g.73558260C>G GRCh37
NC_000010.9:g.73228266C>G NCBI36
NG_008835.1:g.406557C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6979C>G MANE Select ENSP00000224721.9:p.Leu2327Val
ENST00000642965.1:c.912C>G ENSP00000495222.1:n.912C>G
ENST00000647092.1:c.576C>G ENSP00000495176.1:n.576C>G
ENST00000224721.10:c.6994C>G ENSP00000224721.8:p.Leu2332Val
ENST00000398788.4:c.259C>G ENSP00000381768.3:p.Leu87Val
ENST00000475158.1:n.515C>G
ENST00000619887.4:c.259C>G ENSP00000478374.1:p.Leu87Val
ENST00000622827.4:c.6979C>G ENSP00000483211.1:p.Leu2327Val
NM_001171933.1:c.259C>G NP_001165404.1:p.Leu87Val
NM_001171934.1:c.259C>G NP_001165405.1:p.Leu87Val
NM_022124.5:c.6979C>G NP_071407.4:p.Leu2327Val
XM_006717940.2:c.7174C>G XP_006718003.1:p.Leu2392Val
XM_006717942.2:c.7108C>G XP_006718005.1:p.Leu2370Val
XM_011540039.1:c.7171C>G XP_011538341.1:p.Leu2391Val
XM_011540040.1:c.7168C>G XP_011538342.1:p.Leu2390Val
XM_011540041.1:c.7114C>G XP_011538343.1:p.Leu2372Val
XM_011540042.1:c.7084C>G XP_011538344.1:p.Leu2362Val
XM_011540043.1:c.7174C>G XP_011538345.1:p.Leu2392Val
XM_011540044.1:c.7039C>G XP_011538346.1:p.Leu2347Val
XM_011540045.1:c.7174C>G XP_011538347.1:p.Leu2392Val
XM_011540046.1:c.6634C>G XP_011538348.1:p.Leu2212Val
XM_011540047.1:c.5992C>G XP_011538349.1:p.Leu1998Val
XM_011540052.1:c.3502C>G XP_011538354.1:p.Leu1168Val
NM_022124.6:c.6979C>G MANE Select NP_071407.4:p.Leu2327Val