Canonical Allele Identifier: CA377158032
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798474C>T , CM000672.2:g.71798474C>T GRCh38
NC_000010.10:g.73558231C>T , CM000672.1:g.73558231C>T GRCh37
NC_000010.9:g.73228237C>T NCBI36
NG_008835.1:g.406528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6950C>T MANE Select ENSP00000224721.9:p.Ala2317Val
ENST00000642965.1:c.883C>T ENSP00000495222.1:n.883C>T
ENST00000647092.1:c.547C>T ENSP00000495176.1:n.547C>T
ENST00000224721.10:c.6965C>T ENSP00000224721.8:p.Ala2322Val
ENST00000398788.4:c.230C>T ENSP00000381768.3:p.Ala77Val
ENST00000475158.1:n.486C>T
ENST00000619887.4:c.230C>T ENSP00000478374.1:p.Ala77Val
ENST00000622827.4:c.6950C>T ENSP00000483211.1:p.Ala2317Val
NM_001171933.1:c.230C>T NP_001165404.1:p.Ala77Val
NM_001171934.1:c.230C>T NP_001165405.1:p.Ala77Val
NM_022124.5:c.6950C>T NP_071407.4:p.Ala2317Val
XM_006717940.2:c.7145C>T XP_006718003.1:p.Ala2382Val
XM_006717942.2:c.7079C>T XP_006718005.1:p.Ala2360Val
XM_011540039.1:c.7142C>T XP_011538341.1:p.Ala2381Val
XM_011540040.1:c.7139C>T XP_011538342.1:p.Ala2380Val
XM_011540041.1:c.7085C>T XP_011538343.1:p.Ala2362Val
XM_011540042.1:c.7055C>T XP_011538344.1:p.Ala2352Val
XM_011540043.1:c.7145C>T XP_011538345.1:p.Ala2382Val
XM_011540044.1:c.7010C>T XP_011538346.1:p.Ala2337Val
XM_011540045.1:c.7145C>T XP_011538347.1:p.Ala2382Val
XM_011540046.1:c.6605C>T XP_011538348.1:p.Ala2202Val
XM_011540047.1:c.5963C>T XP_011538349.1:p.Ala1988Val
XM_011540052.1:c.3473C>T XP_011538354.1:p.Ala1158Val
NM_022124.6:c.6950C>T MANE Select NP_071407.4:p.Ala2317Val