Canonical Allele Identifier: CA377159232
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799523C>T , CM000672.2:g.71799523C>T GRCh38
NC_000010.10:g.73559280C>T , CM000672.1:g.73559280C>T GRCh37
NC_000010.9:g.73229286C>T NCBI36
NG_008835.1:g.407577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7256C>T MANE Select ENSP00000224721.9:p.Thr2419Ile
ENST00000642965.1:c.1189C>T ENSP00000495222.1:n.1189C>T
ENST00000647092.1:c.853C>T ENSP00000495176.1:n.853C>T
ENST00000224721.10:c.7271C>T ENSP00000224721.8:p.Thr2424Ile
ENST00000398788.4:c.536C>T ENSP00000381768.3:p.Thr179Ile
ENST00000475158.1:n.792C>T
ENST00000619887.4:c.536C>T ENSP00000478374.1:p.Thr179Ile
ENST00000622827.4:c.7256C>T ENSP00000483211.1:p.Thr2419Ile
NM_001171933.1:c.536C>T NP_001165404.1:p.Thr179Ile
NM_001171934.1:c.536C>T NP_001165405.1:p.Thr179Ile
NM_022124.5:c.7256C>T NP_071407.4:p.Thr2419Ile
XM_006717940.2:c.7451C>T XP_006718003.1:p.Thr2484Ile
XM_006717942.2:c.7385C>T XP_006718005.1:p.Thr2462Ile
XM_011540039.1:c.7448C>T XP_011538341.1:p.Thr2483Ile
XM_011540040.1:c.7445C>T XP_011538342.1:p.Thr2482Ile
XM_011540041.1:c.7391C>T XP_011538343.1:p.Thr2464Ile
XM_011540042.1:c.7361C>T XP_011538344.1:p.Thr2454Ile
XM_011540043.1:c.7451C>T XP_011538345.1:p.Thr2484Ile
XM_011540044.1:c.7316C>T XP_011538346.1:p.Thr2439Ile
XM_011540045.1:c.7451C>T XP_011538347.1:p.Thr2484Ile
XM_011540046.1:c.6911C>T XP_011538348.1:p.Thr2304Ile
XM_011540047.1:c.6269C>T XP_011538349.1:p.Thr2090Ile
XM_011540052.1:c.3779C>T XP_011538354.1:p.Thr1260Ile
NM_022124.6:c.7256C>T MANE Select NP_071407.4:p.Thr2419Ile