Canonical Allele Identifier: CA377157750
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798393C>A , CM000672.2:g.71798393C>A GRCh38
NC_000010.10:g.73558150C>A , CM000672.1:g.73558150C>A GRCh37
NC_000010.9:g.73228156C>A NCBI36
NG_008835.1:g.406447C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6869C>A MANE Select ENSP00000224721.9:p.Thr2290Lys
ENST00000642965.1:c.802C>A ENSP00000495222.1:n.802C>A
ENST00000647092.1:c.466C>A ENSP00000495176.1:n.466C>A
ENST00000224721.10:c.6884C>A ENSP00000224721.8:p.Thr2295Lys
ENST00000398788.4:c.149C>A ENSP00000381768.3:p.Thr50Lys
ENST00000475158.1:n.405C>A
ENST00000619887.4:c.149C>A ENSP00000478374.1:p.Thr50Lys
ENST00000622827.4:c.6869C>A ENSP00000483211.1:p.Thr2290Lys
NM_001171933.1:c.149C>A NP_001165404.1:p.Thr50Lys
NM_001171934.1:c.149C>A NP_001165405.1:p.Thr50Lys
NM_022124.5:c.6869C>A NP_071407.4:p.Thr2290Lys
XM_006717940.2:c.7064C>A XP_006718003.1:p.Thr2355Lys
XM_006717942.2:c.6998C>A XP_006718005.1:p.Thr2333Lys
XM_011540039.1:c.7061C>A XP_011538341.1:p.Thr2354Lys
XM_011540040.1:c.7058C>A XP_011538342.1:p.Thr2353Lys
XM_011540041.1:c.7004C>A XP_011538343.1:p.Thr2335Lys
XM_011540042.1:c.6974C>A XP_011538344.1:p.Thr2325Lys
XM_011540043.1:c.7064C>A XP_011538345.1:p.Thr2355Lys
XM_011540044.1:c.6929C>A XP_011538346.1:p.Thr2310Lys
XM_011540045.1:c.7064C>A XP_011538347.1:p.Thr2355Lys
XM_011540046.1:c.6524C>A XP_011538348.1:p.Thr2175Lys
XM_011540047.1:c.5882C>A XP_011538349.1:p.Thr1961Lys
XM_011540052.1:c.3392C>A XP_011538354.1:p.Thr1131Lys
NM_022124.6:c.6869C>A MANE Select NP_071407.4:p.Thr2290Lys