Canonical Allele Identifier: CA5546231
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs779309267

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798549G>C , CM000672.2:g.71798549G>C GRCh38
NC_000010.10:g.73558306G>C , CM000672.1:g.73558306G>C GRCh37
NC_000010.9:g.73228312G>C NCBI36
NG_008835.1:g.406603G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7025G>C MANE Select ENSP00000224721.9:p.Gly2342Ala
ENST00000642965.1:c.958G>C ENSP00000495222.1:n.958G>C
ENST00000647092.1:c.622G>C ENSP00000495176.1:n.622G>C
ENST00000224721.10:c.7040G>C ENSP00000224721.8:p.Gly2347Ala
ENST00000398788.4:c.305G>C ENSP00000381768.3:p.Gly102Ala
ENST00000475158.1:n.561G>C
ENST00000619887.4:c.305G>C ENSP00000478374.1:p.Gly102Ala
ENST00000622827.4:c.7025G>C ENSP00000483211.1:p.Gly2342Ala
NM_001171933.1:c.305G>C NP_001165404.1:p.Gly102Ala
NM_001171934.1:c.305G>C NP_001165405.1:p.Gly102Ala
NM_022124.5:c.7025G>C NP_071407.4:p.Gly2342Ala
XM_006717940.2:c.7220G>C XP_006718003.1:p.Gly2407Ala
XM_006717942.2:c.7154G>C XP_006718005.1:p.Gly2385Ala
XM_011540039.1:c.7217G>C XP_011538341.1:p.Gly2406Ala
XM_011540040.1:c.7214G>C XP_011538342.1:p.Gly2405Ala
XM_011540041.1:c.7160G>C XP_011538343.1:p.Gly2387Ala
XM_011540042.1:c.7130G>C XP_011538344.1:p.Gly2377Ala
XM_011540043.1:c.7220G>C XP_011538345.1:p.Gly2407Ala
XM_011540044.1:c.7085G>C XP_011538346.1:p.Gly2362Ala
XM_011540045.1:c.7220G>C XP_011538347.1:p.Gly2407Ala
XM_011540046.1:c.6680G>C XP_011538348.1:p.Gly2227Ala
XM_011540047.1:c.6038G>C XP_011538349.1:p.Gly2013Ala
XM_011540052.1:c.3548G>C XP_011538354.1:p.Gly1183Ala
NM_022124.6:c.7025G>C MANE Select NP_071407.4:p.Gly2342Ala