Canonical Allele Identifier: CA377157784
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798402T>G , CM000672.2:g.71798402T>G GRCh38
NC_000010.10:g.73558159T>G , CM000672.1:g.73558159T>G GRCh37
NC_000010.9:g.73228165T>G NCBI36
NG_008835.1:g.406456T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6878T>G MANE Select ENSP00000224721.9:p.Phe2293Cys
ENST00000642965.1:c.811T>G ENSP00000495222.1:n.811T>G
ENST00000647092.1:c.475T>G ENSP00000495176.1:n.475T>G
ENST00000224721.10:c.6893T>G ENSP00000224721.8:p.Phe2298Cys
ENST00000398788.4:c.158T>G ENSP00000381768.3:p.Phe53Cys
ENST00000475158.1:n.414T>G
ENST00000619887.4:c.158T>G ENSP00000478374.1:p.Phe53Cys
ENST00000622827.4:c.6878T>G ENSP00000483211.1:p.Phe2293Cys
NM_001171933.1:c.158T>G NP_001165404.1:p.Phe53Cys
NM_001171934.1:c.158T>G NP_001165405.1:p.Phe53Cys
NM_022124.5:c.6878T>G NP_071407.4:p.Phe2293Cys
XM_006717940.2:c.7073T>G XP_006718003.1:p.Phe2358Cys
XM_006717942.2:c.7007T>G XP_006718005.1:p.Phe2336Cys
XM_011540039.1:c.7070T>G XP_011538341.1:p.Phe2357Cys
XM_011540040.1:c.7067T>G XP_011538342.1:p.Phe2356Cys
XM_011540041.1:c.7013T>G XP_011538343.1:p.Phe2338Cys
XM_011540042.1:c.6983T>G XP_011538344.1:p.Phe2328Cys
XM_011540043.1:c.7073T>G XP_011538345.1:p.Phe2358Cys
XM_011540044.1:c.6938T>G XP_011538346.1:p.Phe2313Cys
XM_011540045.1:c.7073T>G XP_011538347.1:p.Phe2358Cys
XM_011540046.1:c.6533T>G XP_011538348.1:p.Phe2178Cys
XM_011540047.1:c.5891T>G XP_011538349.1:p.Phe1964Cys
XM_011540052.1:c.3401T>G XP_011538354.1:p.Phe1134Cys
NM_022124.6:c.6878T>G MANE Select NP_071407.4:p.Phe2293Cys