Canonical Allele Identifier: CA377133251
Community Standard Title: NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71809900C>T , CM000672.2:g.71809900C>T GRCh38
NC_000010.10:g.73569657C>T , CM000672.1:g.73569657C>T GRCh37
NC_000010.9:g.73239663C>T NCBI36
NG_008835.1:g.417954C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.8803C>T MANE Select NP_071407.4:p.Arg2935Ter
ENST00000224721.12:c.8803C>T MANE Select ENSP00000224721.9:p.Arg2935Ter
NM_001171933.1:c.2083C>T NP_001165404.1:p.Arg695Ter
NM_001171934.1:c.2083C>T NP_001165405.1:p.Arg695Ter
NM_022124.5:c.8803C>T NP_071407.4:p.Arg2935Ter
ENST00000224721.10:c.8818C>T ENSP00000224721.8:p.Arg2940Ter
ENST00000398788.4:c.2083C>T ENSP00000381768.3:p.Arg695Ter
ENST00000475158.1:n.2339C>T
ENST00000619887.4:c.2083C>T ENSP00000478374.1:p.Arg695Ter
ENST00000622827.4:c.8803C>T ENSP00000483211.1:p.Arg2935Ter
ENST00000642965.1:c.2736C>T ENSP00000495222.1:n.2736C>T
ENST00000647092.1:c.2400C>T ENSP00000495176.1:n.2400C>T
XM_006717940.2:c.8998C>T XP_006718003.1:p.Arg3000Ter
XM_006717942.2:c.8932C>T XP_006718005.1:p.Arg2978Ter
XM_011540039.1:c.8995C>T XP_011538341.1:p.Arg2999Ter
XM_011540040.1:c.8992C>T XP_011538342.1:p.Arg2998Ter
XM_011540041.1:c.8938C>T XP_011538343.1:p.Arg2980Ter
XM_011540042.1:c.8908C>T XP_011538344.1:p.Arg2970Ter
XM_011540043.1:c.8998C>T XP_011538345.1:p.Arg3000Ter
XM_011540044.1:c.8863C>T XP_011538346.1:p.Arg2955Ter
XM_011540045.1:c.8998C>T XP_011538347.1:p.Arg3000Ter
XM_011540046.1:c.8458C>T XP_011538348.1:p.Arg2820Ter
XM_011540047.1:c.7816C>T XP_011538349.1:p.Arg2606Ter
XM_011540052.1:c.5326C>T XP_011538354.1:p.Arg1776Ter