Canonical Allele Identifier: CA209469662
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1001630545

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798521T>C , CM000672.2:g.71798521T>C GRCh38
NC_000010.10:g.73558278T>C , CM000672.1:g.73558278T>C GRCh37
NC_000010.9:g.73228284T>C NCBI36
NG_008835.1:g.406575T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6997T>C MANE Select ENSP00000224721.9:p.Tyr2333His
ENST00000642965.1:c.930T>C ENSP00000495222.1:n.930T>C
ENST00000647092.1:c.594T>C ENSP00000495176.1:n.594T>C
ENST00000224721.10:c.7012T>C ENSP00000224721.8:p.Tyr2338His
ENST00000398788.4:c.277T>C ENSP00000381768.3:p.Tyr93His
ENST00000475158.1:n.533T>C
ENST00000619887.4:c.277T>C ENSP00000478374.1:p.Tyr93His
ENST00000622827.4:c.6997T>C ENSP00000483211.1:p.Tyr2333His
NM_001171933.1:c.277T>C NP_001165404.1:p.Tyr93His
NM_001171934.1:c.277T>C NP_001165405.1:p.Tyr93His
NM_022124.5:c.6997T>C NP_071407.4:p.Tyr2333His
XM_006717940.2:c.7192T>C XP_006718003.1:p.Tyr2398His
XM_006717942.2:c.7126T>C XP_006718005.1:p.Tyr2376His
XM_011540039.1:c.7189T>C XP_011538341.1:p.Tyr2397His
XM_011540040.1:c.7186T>C XP_011538342.1:p.Tyr2396His
XM_011540041.1:c.7132T>C XP_011538343.1:p.Tyr2378His
XM_011540042.1:c.7102T>C XP_011538344.1:p.Tyr2368His
XM_011540043.1:c.7192T>C XP_011538345.1:p.Tyr2398His
XM_011540044.1:c.7057T>C XP_011538346.1:p.Tyr2353His
XM_011540045.1:c.7192T>C XP_011538347.1:p.Tyr2398His
XM_011540046.1:c.6652T>C XP_011538348.1:p.Tyr2218His
XM_011540047.1:c.6010T>C XP_011538349.1:p.Tyr2004His
XM_011540052.1:c.3520T>C XP_011538354.1:p.Tyr1174His
NM_022124.6:c.6997T>C MANE Select NP_071407.4:p.Tyr2333His