Canonical Allele Identifier: CA377158530
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798575G>C , CM000672.2:g.71798575G>C GRCh38
NC_000010.10:g.73558332G>C , CM000672.1:g.73558332G>C GRCh37
NC_000010.9:g.73228338G>C NCBI36
NG_008835.1:g.406629G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7051G>C MANE Select ENSP00000224721.9:p.Ala2351Pro
ENST00000642965.1:c.984G>C ENSP00000495222.1:n.984G>C
ENST00000647092.1:c.648G>C ENSP00000495176.1:n.648G>C
ENST00000224721.10:c.7066G>C ENSP00000224721.8:p.Ala2356Pro
ENST00000398788.4:c.331G>C ENSP00000381768.3:p.Ala111Pro
ENST00000475158.1:n.587G>C
ENST00000619887.4:c.331G>C ENSP00000478374.1:p.Ala111Pro
ENST00000622827.4:c.7051G>C ENSP00000483211.1:p.Ala2351Pro
NM_001171933.1:c.331G>C NP_001165404.1:p.Ala111Pro
NM_001171934.1:c.331G>C NP_001165405.1:p.Ala111Pro
NM_022124.5:c.7051G>C NP_071407.4:p.Ala2351Pro
XM_006717940.2:c.7246G>C XP_006718003.1:p.Ala2416Pro
XM_006717942.2:c.7180G>C XP_006718005.1:p.Ala2394Pro
XM_011540039.1:c.7243G>C XP_011538341.1:p.Ala2415Pro
XM_011540040.1:c.7240G>C XP_011538342.1:p.Ala2414Pro
XM_011540041.1:c.7186G>C XP_011538343.1:p.Ala2396Pro
XM_011540042.1:c.7156G>C XP_011538344.1:p.Ala2386Pro
XM_011540043.1:c.7246G>C XP_011538345.1:p.Ala2416Pro
XM_011540044.1:c.7111G>C XP_011538346.1:p.Ala2371Pro
XM_011540045.1:c.7246G>C XP_011538347.1:p.Ala2416Pro
XM_011540046.1:c.6706G>C XP_011538348.1:p.Ala2236Pro
XM_011540047.1:c.6064G>C XP_011538349.1:p.Ala2022Pro
XM_011540052.1:c.3574G>C XP_011538354.1:p.Ala1192Pro
NM_022124.6:c.7051G>C MANE Select NP_071407.4:p.Ala2351Pro