Canonical Allele Identifier: CA377157722
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798386G>C , CM000672.2:g.71798386G>C GRCh38
NC_000010.10:g.73558143G>C , CM000672.1:g.73558143G>C GRCh37
NC_000010.9:g.73228149G>C NCBI36
NG_008835.1:g.406440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6862G>C MANE Select ENSP00000224721.9:p.Asp2288His
ENST00000642965.1:c.795G>C ENSP00000495222.1:n.795G>C
ENST00000647092.1:c.459G>C ENSP00000495176.1:n.459G>C
ENST00000224721.10:c.6877G>C ENSP00000224721.8:p.Asp2293His
ENST00000398788.4:c.142G>C ENSP00000381768.3:p.Asp48His
ENST00000475158.1:n.398G>C
ENST00000619887.4:c.142G>C ENSP00000478374.1:p.Asp48His
ENST00000622827.4:c.6862G>C ENSP00000483211.1:p.Asp2288His
NM_001171933.1:c.142G>C NP_001165404.1:p.Asp48His
NM_001171934.1:c.142G>C NP_001165405.1:p.Asp48His
NM_022124.5:c.6862G>C NP_071407.4:p.Asp2288His
XM_006717940.2:c.7057G>C XP_006718003.1:p.Asp2353His
XM_006717942.2:c.6991G>C XP_006718005.1:p.Asp2331His
XM_011540039.1:c.7054G>C XP_011538341.1:p.Asp2352His
XM_011540040.1:c.7051G>C XP_011538342.1:p.Asp2351His
XM_011540041.1:c.6997G>C XP_011538343.1:p.Asp2333His
XM_011540042.1:c.6967G>C XP_011538344.1:p.Asp2323His
XM_011540043.1:c.7057G>C XP_011538345.1:p.Asp2353His
XM_011540044.1:c.6922G>C XP_011538346.1:p.Asp2308His
XM_011540045.1:c.7057G>C XP_011538347.1:p.Asp2353His
XM_011540046.1:c.6517G>C XP_011538348.1:p.Asp2173His
XM_011540047.1:c.5875G>C XP_011538349.1:p.Asp1959His
XM_011540052.1:c.3385G>C XP_011538354.1:p.Asp1129His
NM_022124.6:c.6862G>C MANE Select NP_071407.4:p.Asp2288His