Canonical Allele Identifier: CA377131286
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807518G>T , CM000672.2:g.71807518G>T GRCh38
NC_000010.10:g.73567275G>T , CM000672.1:g.73567275G>T GRCh37
NC_000010.9:g.73237281G>T NCBI36
NG_008835.1:g.415572G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8311G>T MANE Select ENSP00000224721.9:p.Gly2771Cys
ENST00000642965.1:c.2244G>T ENSP00000495222.1:n.2244G>T
ENST00000647092.1:c.1908G>T ENSP00000495176.1:n.1908G>T
ENST00000224721.10:c.8326G>T ENSP00000224721.8:p.Gly2776Cys
ENST00000398788.4:c.1591G>T ENSP00000381768.3:p.Gly531Cys
ENST00000475158.1:n.1847G>T
ENST00000619887.4:c.1591G>T ENSP00000478374.1:p.Gly531Cys
ENST00000622827.4:c.8311G>T ENSP00000483211.1:p.Gly2771Cys
NM_001171933.1:c.1591G>T NP_001165404.1:p.Gly531Cys
NM_001171934.1:c.1591G>T NP_001165405.1:p.Gly531Cys
NM_022124.5:c.8311G>T NP_071407.4:p.Gly2771Cys
XM_006717940.2:c.8506G>T XP_006718003.1:p.Gly2836Cys
XM_006717942.2:c.8440G>T XP_006718005.1:p.Gly2814Cys
XM_011540039.1:c.8503G>T XP_011538341.1:p.Gly2835Cys
XM_011540040.1:c.8500G>T XP_011538342.1:p.Gly2834Cys
XM_011540041.1:c.8446G>T XP_011538343.1:p.Gly2816Cys
XM_011540042.1:c.8416G>T XP_011538344.1:p.Gly2806Cys
XM_011540043.1:c.8506G>T XP_011538345.1:p.Gly2836Cys
XM_011540044.1:c.8371G>T XP_011538346.1:p.Gly2791Cys
XM_011540045.1:c.8506G>T XP_011538347.1:p.Gly2836Cys
XM_011540046.1:c.7966G>T XP_011538348.1:p.Gly2656Cys
XM_011540047.1:c.7324G>T XP_011538349.1:p.Gly2442Cys
XM_011540052.1:c.4834G>T XP_011538354.1:p.Gly1612Cys
NM_022124.6:c.8311G>T MANE Select NP_071407.4:p.Gly2771Cys