Canonical Allele Identifier: CA10576821
Community Standard Title: NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71812813C>T , CM000672.2:g.71812813C>T GRCh38
NC_000010.10:g.73572570C>T , CM000672.1:g.73572570C>T GRCh37
NC_000010.9:g.73242576C>T NCBI36
NG_008835.1:g.420867C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9556C>T MANE Select NP_071407.4:p.Arg3186Ter
ENST00000224721.12:c.9556C>T MANE Select ENSP00000224721.9:p.Arg3186Ter
NM_001171933.1:c.2836C>T NP_001165404.1:p.Arg946Ter
NM_001171934.1:c.2836C>T NP_001165405.1:p.Arg946Ter
NM_001171935.1:c.247C>T NP_001165406.1:p.Arg83Ter
NM_001171936.1:c.247C>T NP_001165407.1:p.Arg83Ter
NM_022124.5:c.9556C>T NP_071407.4:p.Arg3186Ter
ENST00000224721.10:c.9571C>T ENSP00000224721.8:p.Arg3191Ter
ENST00000398788.4:c.2836C>T ENSP00000381768.3:p.Arg946Ter
ENST00000475158.1:n.3092C>T
ENST00000619887.4:c.2836C>T ENSP00000478374.1:p.Arg946Ter
ENST00000622827.4:c.9556C>T ENSP00000483211.1:p.Arg3186Ter
ENST00000642965.1:c.3489C>T ENSP00000495222.1:n.3489C>T
ENST00000647092.1:c.3153C>T ENSP00000495176.1:n.3153C>T
XM_006717940.2:c.9751C>T XP_006718003.1:p.Arg3251Ter
XM_006717942.2:c.9685C>T XP_006718005.1:p.Arg3229Ter
XM_011540039.1:c.9748C>T XP_011538341.1:p.Arg3250Ter
XM_011540040.1:c.9745C>T XP_011538342.1:p.Arg3249Ter
XM_011540041.1:c.9691C>T XP_011538343.1:p.Arg3231Ter
XM_011540042.1:c.9661C>T XP_011538344.1:p.Arg3221Ter
XM_011540043.1:c.9751C>T XP_011538345.1:p.Arg3251Ter
XM_011540044.1:c.9616C>T XP_011538346.1:p.Arg3206Ter
XM_011540045.1:c.9751C>T XP_011538347.1:p.Arg3251Ter
XM_011540046.1:c.9211C>T XP_011538348.1:p.Arg3071Ter
XM_011540047.1:c.8569C>T XP_011538349.1:p.Arg2857Ter
XM_011540052.1:c.6079C>T XP_011538354.1:p.Arg2027Ter