Canonical Allele Identifier: CA5547223
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71815155G>A , CM000672.2:g.71815155G>A GRCh38
NC_000010.10:g.73574912G>A , CM000672.1:g.73574912G>A GRCh37
NC_000010.9:g.73244918G>A NCBI36
NG_008835.1:g.423209G>A
NG_009301.1:g.41171C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.9942G>A MANE Select ENSP00000224721.9:p.Thr3314=
ENST00000642965.1:c.3875G>A ENSP00000495222.1:n.3875G>A
ENST00000647092.1:c.3434G>A ENSP00000495176.1:n.3434G>A
ENST00000224721.10:c.9957G>A ENSP00000224721.8:p.Thr3319=
ENST00000398788.4:c.3222G>A ENSP00000381768.3:p.Thr1074=
ENST00000475158.1:n.3373G>A
ENST00000619887.4:c.3117G>A ENSP00000478374.1:p.Thr1039=
ENST00000622827.4:c.9942G>A ENSP00000483211.1:p.Thr3314=
NM_001171933.1:c.3222G>A NP_001165404.1:p.Thr1074=
NM_001171934.1:c.3117G>A NP_001165405.1:p.Thr1039=
NM_001171935.1:c.633G>A NP_001165406.1:p.Thr211=
NM_001171936.1:c.528G>A NP_001165407.1:p.Thr176=
NM_022124.5:c.9942G>A NP_071407.4:p.Thr3314=
XM_006717940.2:c.10137G>A XP_006718003.1:p.Thr3379=
XM_006717942.2:c.10071G>A XP_006718005.1:p.Thr3357=
XM_011540039.1:c.10134G>A XP_011538341.1:p.Thr3378=
XM_011540040.1:c.10131G>A XP_011538342.1:p.Thr3377=
XM_011540041.1:c.10077G>A XP_011538343.1:p.Thr3359=
XM_011540042.1:c.10047G>A XP_011538344.1:p.Thr3349=
XM_011540043.1:c.10032G>A XP_011538345.1:p.Thr3344=
XM_011540044.1:c.10002G>A XP_011538346.1:p.Thr3334=
XM_011540046.1:c.9597G>A XP_011538348.1:p.Thr3199=
XM_011540047.1:c.8955G>A XP_011538349.1:p.Thr2985=
XM_011540052.1:c.6465G>A XP_011538354.1:p.Thr2155=
NM_022124.6:c.9942G>A MANE Select NP_071407.4:p.Thr3314=