Canonical Allele Identifier: CA470282157
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807285C>T , CM000672.2:g.71807285C>T GRCh38
NC_000010.10:g.73567042C>T , CM000672.1:g.73567042C>T GRCh37
NC_000010.9:g.73237048C>T NCBI36
NG_008835.1:g.415339C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8187C>T MANE Select ENSP00000224721.9:p.Ser2729=
ENST00000642965.1:c.2120C>T ENSP00000495222.1:n.2120C>T
ENST00000647092.1:c.1784C>T ENSP00000495176.1:n.1784C>T
ENST00000224721.10:c.8202C>T ENSP00000224721.8:p.Ser2734=
ENST00000398788.4:c.1467C>T ENSP00000381768.3:p.Ser489=
ENST00000475158.1:n.1723C>T
ENST00000619887.4:c.1467C>T ENSP00000478374.1:p.Ser489=
ENST00000622827.4:c.8187C>T ENSP00000483211.1:p.Ser2729=
NM_001171933.1:c.1467C>T NP_001165404.1:p.Ser489=
NM_001171934.1:c.1467C>T NP_001165405.1:p.Ser489=
NM_022124.5:c.8187C>T NP_071407.4:p.Ser2729=
XM_006717940.2:c.8382C>T XP_006718003.1:p.Ser2794=
XM_006717942.2:c.8316C>T XP_006718005.1:p.Ser2772=
XM_011540039.1:c.8379C>T XP_011538341.1:p.Ser2793=
XM_011540040.1:c.8376C>T XP_011538342.1:p.Ser2792=
XM_011540041.1:c.8322C>T XP_011538343.1:p.Ser2774=
XM_011540042.1:c.8292C>T XP_011538344.1:p.Ser2764=
XM_011540043.1:c.8382C>T XP_011538345.1:p.Ser2794=
XM_011540044.1:c.8247C>T XP_011538346.1:p.Ser2749=
XM_011540045.1:c.8382C>T XP_011538347.1:p.Ser2794=
XM_011540046.1:c.7842C>T XP_011538348.1:p.Ser2614=
XM_011540047.1:c.7200C>T XP_011538349.1:p.Ser2400=
XM_011540052.1:c.4710C>T XP_011538354.1:p.Ser1570=
NM_022124.6:c.8187C>T MANE Select NP_071407.4:p.Ser2729=