Canonical Allele Identifier: CA377157993
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798462C>T , CM000672.2:g.71798462C>T GRCh38
NC_000010.10:g.73558219C>T , CM000672.1:g.73558219C>T GRCh37
NC_000010.9:g.73228225C>T NCBI36
NG_008835.1:g.406516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6938C>T MANE Select ENSP00000224721.9:p.Thr2313Ile
ENST00000642965.1:c.871C>T ENSP00000495222.1:n.871C>T
ENST00000647092.1:c.535C>T ENSP00000495176.1:n.535C>T
ENST00000224721.10:c.6953C>T ENSP00000224721.8:p.Thr2318Ile
ENST00000398788.4:c.218C>T ENSP00000381768.3:p.Thr73Ile
ENST00000475158.1:n.474C>T
ENST00000619887.4:c.218C>T ENSP00000478374.1:p.Thr73Ile
ENST00000622827.4:c.6938C>T ENSP00000483211.1:p.Thr2313Ile
NM_001171933.1:c.218C>T NP_001165404.1:p.Thr73Ile
NM_001171934.1:c.218C>T NP_001165405.1:p.Thr73Ile
NM_022124.5:c.6938C>T NP_071407.4:p.Thr2313Ile
XM_006717940.2:c.7133C>T XP_006718003.1:p.Thr2378Ile
XM_006717942.2:c.7067C>T XP_006718005.1:p.Thr2356Ile
XM_011540039.1:c.7130C>T XP_011538341.1:p.Thr2377Ile
XM_011540040.1:c.7127C>T XP_011538342.1:p.Thr2376Ile
XM_011540041.1:c.7073C>T XP_011538343.1:p.Thr2358Ile
XM_011540042.1:c.7043C>T XP_011538344.1:p.Thr2348Ile
XM_011540043.1:c.7133C>T XP_011538345.1:p.Thr2378Ile
XM_011540044.1:c.6998C>T XP_011538346.1:p.Thr2333Ile
XM_011540045.1:c.7133C>T XP_011538347.1:p.Thr2378Ile
XM_011540046.1:c.6593C>T XP_011538348.1:p.Thr2198Ile
XM_011540047.1:c.5951C>T XP_011538349.1:p.Thr1984Ile
XM_011540052.1:c.3461C>T XP_011538354.1:p.Thr1154Ile
NM_022124.6:c.6938C>T MANE Select NP_071407.4:p.Thr2313Ile