Canonical Allele Identifier: CA377157770
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1303315578

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6875A>G MANE Select ENSP00000224721.9:p.Gln2292Arg
ENST00000642965.1:c.808A>G ENSP00000495222.1:n.808A>G
ENST00000647092.1:c.472A>G ENSP00000495176.1:n.472A>G
ENST00000224721.10:c.6890A>G ENSP00000224721.8:p.Gln2297Arg
ENST00000398788.4:c.155A>G ENSP00000381768.3:p.Gln52Arg
ENST00000475158.1:n.411A>G
ENST00000619887.4:c.155A>G ENSP00000478374.1:p.Gln52Arg
ENST00000622827.4:c.6875A>G ENSP00000483211.1:p.Gln2292Arg
NM_001171933.1:c.155A>G NP_001165404.1:p.Gln52Arg
NM_001171934.1:c.155A>G NP_001165405.1:p.Gln52Arg
NM_022124.5:c.6875A>G NP_071407.4:p.Gln2292Arg
XM_006717940.2:c.7070A>G XP_006718003.1:p.Gln2357Arg
XM_006717942.2:c.7004A>G XP_006718005.1:p.Gln2335Arg
XM_011540039.1:c.7067A>G XP_011538341.1:p.Gln2356Arg
XM_011540040.1:c.7064A>G XP_011538342.1:p.Gln2355Arg
XM_011540041.1:c.7010A>G XP_011538343.1:p.Gln2337Arg
XM_011540042.1:c.6980A>G XP_011538344.1:p.Gln2327Arg
XM_011540043.1:c.7070A>G XP_011538345.1:p.Gln2357Arg
XM_011540044.1:c.6935A>G XP_011538346.1:p.Gln2312Arg
XM_011540045.1:c.7070A>G XP_011538347.1:p.Gln2357Arg
XM_011540046.1:c.6530A>G XP_011538348.1:p.Gln2177Arg
XM_011540047.1:c.5888A>G XP_011538349.1:p.Gln1963Arg
XM_011540052.1:c.3398A>G XP_011538354.1:p.Gln1133Arg
NM_022124.6:c.6875A>G MANE Select NP_071407.4:p.Gln2292Arg