Canonical Allele Identifier: CA377157649
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798363C>G , CM000672.2:g.71798363C>G GRCh38
NC_000010.10:g.73558120C>G , CM000672.1:g.73558120C>G GRCh37
NC_000010.9:g.73228126C>G NCBI36
NG_008835.1:g.406417C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6839C>G MANE Select ENSP00000224721.9:p.Thr2280Ser
ENST00000642965.1:c.772C>G ENSP00000495222.1:n.772C>G
ENST00000647092.1:c.436C>G ENSP00000495176.1:n.436C>G
ENST00000224721.10:c.6854C>G ENSP00000224721.8:p.Thr2285Ser
ENST00000398788.4:c.119C>G ENSP00000381768.3:p.Thr40Ser
ENST00000475158.1:n.375C>G
ENST00000619887.4:c.119C>G ENSP00000478374.1:p.Thr40Ser
ENST00000622827.4:c.6839C>G ENSP00000483211.1:p.Thr2280Ser
NM_001171933.1:c.119C>G NP_001165404.1:p.Thr40Ser
NM_001171934.1:c.119C>G NP_001165405.1:p.Thr40Ser
NM_022124.5:c.6839C>G NP_071407.4:p.Thr2280Ser
XM_006717940.2:c.7034C>G XP_006718003.1:p.Thr2345Ser
XM_006717942.2:c.6968C>G XP_006718005.1:p.Thr2323Ser
XM_011540039.1:c.7031C>G XP_011538341.1:p.Thr2344Ser
XM_011540040.1:c.7028C>G XP_011538342.1:p.Thr2343Ser
XM_011540041.1:c.6974C>G XP_011538343.1:p.Thr2325Ser
XM_011540042.1:c.6944C>G XP_011538344.1:p.Thr2315Ser
XM_011540043.1:c.7034C>G XP_011538345.1:p.Thr2345Ser
XM_011540044.1:c.6899C>G XP_011538346.1:p.Thr2300Ser
XM_011540045.1:c.7034C>G XP_011538347.1:p.Thr2345Ser
XM_011540046.1:c.6494C>G XP_011538348.1:p.Thr2165Ser
XM_011540047.1:c.5852C>G XP_011538349.1:p.Thr1951Ser
XM_011540052.1:c.3362C>G XP_011538354.1:p.Thr1121Ser
NM_022124.6:c.6839C>G MANE Select NP_071407.4:p.Thr2280Ser