Canonical Allele Identifier: CA377158339
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798537T>G , CM000672.2:g.71798537T>G GRCh38
NC_000010.10:g.73558294T>G , CM000672.1:g.73558294T>G GRCh37
NC_000010.9:g.73228300T>G NCBI36
NG_008835.1:g.406591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7013T>G MANE Select ENSP00000224721.9:p.Leu2338Arg
ENST00000642965.1:c.946T>G ENSP00000495222.1:n.946T>G
ENST00000647092.1:c.610T>G ENSP00000495176.1:n.610T>G
ENST00000224721.10:c.7028T>G ENSP00000224721.8:p.Leu2343Arg
ENST00000398788.4:c.293T>G ENSP00000381768.3:p.Leu98Arg
ENST00000475158.1:n.549T>G
ENST00000619887.4:c.293T>G ENSP00000478374.1:p.Leu98Arg
ENST00000622827.4:c.7013T>G ENSP00000483211.1:p.Leu2338Arg
NM_001171933.1:c.293T>G NP_001165404.1:p.Leu98Arg
NM_001171934.1:c.293T>G NP_001165405.1:p.Leu98Arg
NM_022124.5:c.7013T>G NP_071407.4:p.Leu2338Arg
XM_006717940.2:c.7208T>G XP_006718003.1:p.Leu2403Arg
XM_006717942.2:c.7142T>G XP_006718005.1:p.Leu2381Arg
XM_011540039.1:c.7205T>G XP_011538341.1:p.Leu2402Arg
XM_011540040.1:c.7202T>G XP_011538342.1:p.Leu2401Arg
XM_011540041.1:c.7148T>G XP_011538343.1:p.Leu2383Arg
XM_011540042.1:c.7118T>G XP_011538344.1:p.Leu2373Arg
XM_011540043.1:c.7208T>G XP_011538345.1:p.Leu2403Arg
XM_011540044.1:c.7073T>G XP_011538346.1:p.Leu2358Arg
XM_011540045.1:c.7208T>G XP_011538347.1:p.Leu2403Arg
XM_011540046.1:c.6668T>G XP_011538348.1:p.Leu2223Arg
XM_011540047.1:c.6026T>G XP_011538349.1:p.Leu2009Arg
XM_011540052.1:c.3536T>G XP_011538354.1:p.Leu1179Arg
NM_022124.6:c.7013T>G MANE Select NP_071407.4:p.Leu2338Arg