Canonical Allele Identifier: CA377158357
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798540T>G , CM000672.2:g.71798540T>G GRCh38
NC_000010.10:g.73558297T>G , CM000672.1:g.73558297T>G GRCh37
NC_000010.9:g.73228303T>G NCBI36
NG_008835.1:g.406594T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7016T>G MANE Select ENSP00000224721.9:p.Val2339Gly
ENST00000642965.1:c.949T>G ENSP00000495222.1:n.949T>G
ENST00000647092.1:c.613T>G ENSP00000495176.1:n.613T>G
ENST00000224721.10:c.7031T>G ENSP00000224721.8:p.Val2344Gly
ENST00000398788.4:c.296T>G ENSP00000381768.3:p.Val99Gly
ENST00000475158.1:n.552T>G
ENST00000619887.4:c.296T>G ENSP00000478374.1:p.Val99Gly
ENST00000622827.4:c.7016T>G ENSP00000483211.1:p.Val2339Gly
NM_001171933.1:c.296T>G NP_001165404.1:p.Val99Gly
NM_001171934.1:c.296T>G NP_001165405.1:p.Val99Gly
NM_022124.5:c.7016T>G NP_071407.4:p.Val2339Gly
XM_006717940.2:c.7211T>G XP_006718003.1:p.Val2404Gly
XM_006717942.2:c.7145T>G XP_006718005.1:p.Val2382Gly
XM_011540039.1:c.7208T>G XP_011538341.1:p.Val2403Gly
XM_011540040.1:c.7205T>G XP_011538342.1:p.Val2402Gly
XM_011540041.1:c.7151T>G XP_011538343.1:p.Val2384Gly
XM_011540042.1:c.7121T>G XP_011538344.1:p.Val2374Gly
XM_011540043.1:c.7211T>G XP_011538345.1:p.Val2404Gly
XM_011540044.1:c.7076T>G XP_011538346.1:p.Val2359Gly
XM_011540045.1:c.7211T>G XP_011538347.1:p.Val2404Gly
XM_011540046.1:c.6671T>G XP_011538348.1:p.Val2224Gly
XM_011540047.1:c.6029T>G XP_011538349.1:p.Val2010Gly
XM_011540052.1:c.3539T>G XP_011538354.1:p.Val1180Gly
NM_022124.6:c.7016T>G MANE Select NP_071407.4:p.Val2339Gly