Canonical Allele Identifier: CA377160652
Gene: CDH23 HGNC NCBI

Linked Data

COSMIC: COSM685427

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71802983C>G , CM000672.2:g.71802983C>G GRCh38
NC_000010.10:g.73562740C>G , CM000672.1:g.73562740C>G GRCh37
NC_000010.9:g.73232746C>G NCBI36
NG_008835.1:g.411037C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7568C>G MANE Select ENSP00000224721.9:p.Pro2523Arg
ENST00000642965.1:c.1501C>G ENSP00000495222.1:n.1501C>G
ENST00000647092.1:c.1165C>G ENSP00000495176.1:n.1165C>G
ENST00000224721.10:c.7583C>G ENSP00000224721.8:p.Pro2528Arg
ENST00000398788.4:c.848C>G ENSP00000381768.3:p.Pro283Arg
ENST00000475158.1:n.1104C>G
ENST00000619887.4:c.848C>G ENSP00000478374.1:p.Pro283Arg
ENST00000622827.4:c.7568C>G ENSP00000483211.1:p.Pro2523Arg
NM_001171933.1:c.848C>G NP_001165404.1:p.Pro283Arg
NM_001171934.1:c.848C>G NP_001165405.1:p.Pro283Arg
NM_022124.5:c.7568C>G NP_071407.4:p.Pro2523Arg
XM_006717940.2:c.7763C>G XP_006718003.1:p.Pro2588Arg
XM_006717942.2:c.7697C>G XP_006718005.1:p.Pro2566Arg
XM_011540039.1:c.7760C>G XP_011538341.1:p.Pro2587Arg
XM_011540040.1:c.7757C>G XP_011538342.1:p.Pro2586Arg
XM_011540041.1:c.7703C>G XP_011538343.1:p.Pro2568Arg
XM_011540042.1:c.7673C>G XP_011538344.1:p.Pro2558Arg
XM_011540043.1:c.7763C>G XP_011538345.1:p.Pro2588Arg
XM_011540044.1:c.7628C>G XP_011538346.1:p.Pro2543Arg
XM_011540045.1:c.7763C>G XP_011538347.1:p.Pro2588Arg
XM_011540046.1:c.7223C>G XP_011538348.1:p.Pro2408Arg
XM_011540047.1:c.6581C>G XP_011538349.1:p.Pro2194Arg
XM_011540052.1:c.4091C>G XP_011538354.1:p.Pro1364Arg
NM_022124.6:c.7568C>G MANE Select NP_071407.4:p.Pro2523Arg