Canonical Allele Identifier: CA377158472
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798560C>G , CM000672.2:g.71798560C>G GRCh38
NC_000010.10:g.73558317C>G , CM000672.1:g.73558317C>G GRCh37
NC_000010.9:g.73228323C>G NCBI36
NG_008835.1:g.406614C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7036C>G MANE Select ENSP00000224721.9:p.Leu2346Val
ENST00000642965.1:c.969C>G ENSP00000495222.1:n.969C>G
ENST00000647092.1:c.633C>G ENSP00000495176.1:n.633C>G
ENST00000224721.10:c.7051C>G ENSP00000224721.8:p.Leu2351Val
ENST00000398788.4:c.316C>G ENSP00000381768.3:p.Leu106Val
ENST00000475158.1:n.572C>G
ENST00000619887.4:c.316C>G ENSP00000478374.1:p.Leu106Val
ENST00000622827.4:c.7036C>G ENSP00000483211.1:p.Leu2346Val
NM_001171933.1:c.316C>G NP_001165404.1:p.Leu106Val
NM_001171934.1:c.316C>G NP_001165405.1:p.Leu106Val
NM_022124.5:c.7036C>G NP_071407.4:p.Leu2346Val
XM_006717940.2:c.7231C>G XP_006718003.1:p.Leu2411Val
XM_006717942.2:c.7165C>G XP_006718005.1:p.Leu2389Val
XM_011540039.1:c.7228C>G XP_011538341.1:p.Leu2410Val
XM_011540040.1:c.7225C>G XP_011538342.1:p.Leu2409Val
XM_011540041.1:c.7171C>G XP_011538343.1:p.Leu2391Val
XM_011540042.1:c.7141C>G XP_011538344.1:p.Leu2381Val
XM_011540043.1:c.7231C>G XP_011538345.1:p.Leu2411Val
XM_011540044.1:c.7096C>G XP_011538346.1:p.Leu2366Val
XM_011540045.1:c.7231C>G XP_011538347.1:p.Leu2411Val
XM_011540046.1:c.6691C>G XP_011538348.1:p.Leu2231Val
XM_011540047.1:c.6049C>G XP_011538349.1:p.Leu2017Val
XM_011540052.1:c.3559C>G XP_011538354.1:p.Leu1187Val
NM_022124.6:c.7036C>G MANE Select NP_071407.4:p.Leu2346Val