Canonical Allele Identifier: CA5546656

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807651G>A , CM000672.2:g.71807651G>A	GRCh38
NC_000010.10:g.73567408G>A , CM000672.1:g.73567408G>A	GRCh37
NC_000010.9:g.73237414G>A	NCBI36
NG_008835.1:g.415705G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8444G>A MANE Select	NP_071407.4:p.Arg2815His
ENST00000224721.12:c.8444G>A MANE Select	ENSP00000224721.9:p.Arg2815His
NM_001171933.1:c.1724G>A	NP_001165404.1:p.Arg575His
NM_001171934.1:c.1724G>A	NP_001165405.1:p.Arg575His
NM_022124.5:c.8444G>A	NP_071407.4:p.Arg2815His
ENST00000224721.10:c.8459G>A	ENSP00000224721.8:p.Arg2820His
ENST00000398788.4:c.1724G>A	ENSP00000381768.3:p.Arg575His
ENST00000475158.1:n.1980G>A
ENST00000619887.4:c.1724G>A	ENSP00000478374.1:p.Arg575His
ENST00000622827.4:c.8444G>A	ENSP00000483211.1:p.Arg2815His
ENST00000642965.1:c.2377G>A	ENSP00000495222.1:n.2377G>A
ENST00000647092.1:c.2041G>A	ENSP00000495176.1:n.2041G>A
XM_006717940.2:c.8639G>A	XP_006718003.1:p.Arg2880His
XM_006717942.2:c.8573G>A	XP_006718005.1:p.Arg2858His
XM_011540039.1:c.8636G>A	XP_011538341.1:p.Arg2879His
XM_011540040.1:c.8633G>A	XP_011538342.1:p.Arg2878His
XM_011540041.1:c.8579G>A	XP_011538343.1:p.Arg2860His
XM_011540042.1:c.8549G>A	XP_011538344.1:p.Arg2850His
XM_011540043.1:c.8639G>A	XP_011538345.1:p.Arg2880His
XM_011540044.1:c.8504G>A	XP_011538346.1:p.Arg2835His
XM_011540045.1:c.8639G>A	XP_011538347.1:p.Arg2880His
XM_011540046.1:c.8099G>A	XP_011538348.1:p.Arg2700His
XM_011540047.1:c.7457G>A	XP_011538349.1:p.Arg2486His
XM_011540052.1:c.4967G>A	XP_011538354.1:p.Arg1656His