Canonical Allele Identifier: CA377157771
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798399A>T , CM000672.2:g.71798399A>T GRCh38
NC_000010.10:g.73558156A>T , CM000672.1:g.73558156A>T GRCh37
NC_000010.9:g.73228162A>T NCBI36
NG_008835.1:g.406453A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6875A>T MANE Select ENSP00000224721.9:p.Gln2292Leu
ENST00000642965.1:c.808A>T ENSP00000495222.1:n.808A>T
ENST00000647092.1:c.472A>T ENSP00000495176.1:n.472A>T
ENST00000224721.10:c.6890A>T ENSP00000224721.8:p.Gln2297Leu
ENST00000398788.4:c.155A>T ENSP00000381768.3:p.Gln52Leu
ENST00000475158.1:n.411A>T
ENST00000619887.4:c.155A>T ENSP00000478374.1:p.Gln52Leu
ENST00000622827.4:c.6875A>T ENSP00000483211.1:p.Gln2292Leu
NM_001171933.1:c.155A>T NP_001165404.1:p.Gln52Leu
NM_001171934.1:c.155A>T NP_001165405.1:p.Gln52Leu
NM_022124.5:c.6875A>T NP_071407.4:p.Gln2292Leu
XM_006717940.2:c.7070A>T XP_006718003.1:p.Gln2357Leu
XM_006717942.2:c.7004A>T XP_006718005.1:p.Gln2335Leu
XM_011540039.1:c.7067A>T XP_011538341.1:p.Gln2356Leu
XM_011540040.1:c.7064A>T XP_011538342.1:p.Gln2355Leu
XM_011540041.1:c.7010A>T XP_011538343.1:p.Gln2337Leu
XM_011540042.1:c.6980A>T XP_011538344.1:p.Gln2327Leu
XM_011540043.1:c.7070A>T XP_011538345.1:p.Gln2357Leu
XM_011540044.1:c.6935A>T XP_011538346.1:p.Gln2312Leu
XM_011540045.1:c.7070A>T XP_011538347.1:p.Gln2357Leu
XM_011540046.1:c.6530A>T XP_011538348.1:p.Gln2177Leu
XM_011540047.1:c.5888A>T XP_011538349.1:p.Gln1963Leu
XM_011540052.1:c.3398A>T XP_011538354.1:p.Gln1133Leu
NM_022124.6:c.6875A>T MANE Select NP_071407.4:p.Gln2292Leu