Canonical Allele Identifier: CA5546335

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800667G>A , CM000672.2:g.71800667G>A	GRCh38
NC_000010.10:g.73560424G>A , CM000672.1:g.73560424G>A	GRCh37
NC_000010.9:g.73230430G>A	NCBI36
NG_008835.1:g.408721G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7394G>A MANE Select	NP_071407.4:p.Arg2465Gln
ENST00000224721.12:c.7394G>A MANE Select	ENSP00000224721.9:p.Arg2465Gln
NM_001171933.1:c.674G>A	NP_001165404.1:p.Arg225Gln
NM_001171934.1:c.674G>A	NP_001165405.1:p.Arg225Gln
NM_022124.5:c.7394G>A	NP_071407.4:p.Arg2465Gln
ENST00000224721.10:c.7409G>A	ENSP00000224721.8:p.Arg2470Gln
ENST00000398788.4:c.674G>A	ENSP00000381768.3:p.Arg225Gln
ENST00000475158.1:n.930G>A
ENST00000619887.4:c.674G>A	ENSP00000478374.1:p.Arg225Gln
ENST00000622827.4:c.7394G>A	ENSP00000483211.1:p.Arg2465Gln
ENST00000642965.1:c.1327G>A	ENSP00000495222.1:n.1327G>A
ENST00000647092.1:c.991G>A	ENSP00000495176.1:n.991G>A
XM_006717940.2:c.7589G>A	XP_006718003.1:p.Arg2530Gln
XM_006717942.2:c.7523G>A	XP_006718005.1:p.Arg2508Gln
XM_011540039.1:c.7586G>A	XP_011538341.1:p.Arg2529Gln
XM_011540040.1:c.7583G>A	XP_011538342.1:p.Arg2528Gln
XM_011540041.1:c.7529G>A	XP_011538343.1:p.Arg2510Gln
XM_011540042.1:c.7499G>A	XP_011538344.1:p.Arg2500Gln
XM_011540043.1:c.7589G>A	XP_011538345.1:p.Arg2530Gln
XM_011540044.1:c.7454G>A	XP_011538346.1:p.Arg2485Gln
XM_011540045.1:c.7589G>A	XP_011538347.1:p.Arg2530Gln
XM_011540046.1:c.7049G>A	XP_011538348.1:p.Arg2350Gln
XM_011540047.1:c.6407G>A	XP_011538349.1:p.Arg2136Gln
XM_011540052.1:c.3917G>A	XP_011538354.1:p.Arg1306Gln