Canonical Allele Identifier: CA377158091
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798492C>T , CM000672.2:g.71798492C>T GRCh38
NC_000010.10:g.73558249C>T , CM000672.1:g.73558249C>T GRCh37
NC_000010.9:g.73228255C>T NCBI36
NG_008835.1:g.406546C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6968C>T MANE Select ENSP00000224721.9:p.Pro2323Leu
ENST00000642965.1:c.901C>T ENSP00000495222.1:n.901C>T
ENST00000647092.1:c.565C>T ENSP00000495176.1:n.565C>T
ENST00000224721.10:c.6983C>T ENSP00000224721.8:p.Pro2328Leu
ENST00000398788.4:c.248C>T ENSP00000381768.3:p.Pro83Leu
ENST00000475158.1:n.504C>T
ENST00000619887.4:c.248C>T ENSP00000478374.1:p.Pro83Leu
ENST00000622827.4:c.6968C>T ENSP00000483211.1:p.Pro2323Leu
NM_001171933.1:c.248C>T NP_001165404.1:p.Pro83Leu
NM_001171934.1:c.248C>T NP_001165405.1:p.Pro83Leu
NM_022124.5:c.6968C>T NP_071407.4:p.Pro2323Leu
XM_006717940.2:c.7163C>T XP_006718003.1:p.Pro2388Leu
XM_006717942.2:c.7097C>T XP_006718005.1:p.Pro2366Leu
XM_011540039.1:c.7160C>T XP_011538341.1:p.Pro2387Leu
XM_011540040.1:c.7157C>T XP_011538342.1:p.Pro2386Leu
XM_011540041.1:c.7103C>T XP_011538343.1:p.Pro2368Leu
XM_011540042.1:c.7073C>T XP_011538344.1:p.Pro2358Leu
XM_011540043.1:c.7163C>T XP_011538345.1:p.Pro2388Leu
XM_011540044.1:c.7028C>T XP_011538346.1:p.Pro2343Leu
XM_011540045.1:c.7163C>T XP_011538347.1:p.Pro2388Leu
XM_011540046.1:c.6623C>T XP_011538348.1:p.Pro2208Leu
XM_011540047.1:c.5981C>T XP_011538349.1:p.Pro1994Leu
XM_011540052.1:c.3491C>T XP_011538354.1:p.Pro1164Leu
NM_022124.6:c.6968C>T MANE Select NP_071407.4:p.Pro2323Leu