Canonical Allele Identifier: CA377157751
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6869C>G MANE Select ENSP00000224721.9:p.Thr2290Arg
ENST00000642965.1:c.802C>G ENSP00000495222.1:n.802C>G
ENST00000647092.1:c.466C>G ENSP00000495176.1:n.466C>G
ENST00000224721.10:c.6884C>G ENSP00000224721.8:p.Thr2295Arg
ENST00000398788.4:c.149C>G ENSP00000381768.3:p.Thr50Arg
ENST00000475158.1:n.405C>G
ENST00000619887.4:c.149C>G ENSP00000478374.1:p.Thr50Arg
ENST00000622827.4:c.6869C>G ENSP00000483211.1:p.Thr2290Arg
NM_001171933.1:c.149C>G NP_001165404.1:p.Thr50Arg
NM_001171934.1:c.149C>G NP_001165405.1:p.Thr50Arg
NM_022124.5:c.6869C>G NP_071407.4:p.Thr2290Arg
XM_006717940.2:c.7064C>G XP_006718003.1:p.Thr2355Arg
XM_006717942.2:c.6998C>G XP_006718005.1:p.Thr2333Arg
XM_011540039.1:c.7061C>G XP_011538341.1:p.Thr2354Arg
XM_011540040.1:c.7058C>G XP_011538342.1:p.Thr2353Arg
XM_011540041.1:c.7004C>G XP_011538343.1:p.Thr2335Arg
XM_011540042.1:c.6974C>G XP_011538344.1:p.Thr2325Arg
XM_011540043.1:c.7064C>G XP_011538345.1:p.Thr2355Arg
XM_011540044.1:c.6929C>G XP_011538346.1:p.Thr2310Arg
XM_011540045.1:c.7064C>G XP_011538347.1:p.Thr2355Arg
XM_011540046.1:c.6524C>G XP_011538348.1:p.Thr2175Arg
XM_011540047.1:c.5882C>G XP_011538349.1:p.Thr1961Arg
XM_011540052.1:c.3392C>G XP_011538354.1:p.Thr1131Arg
NM_022124.6:c.6869C>G MANE Select NP_071407.4:p.Thr2290Arg