Canonical Allele Identifier: CA5547075

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812529G>A , CM000672.2:g.71812529G>A	GRCh38
NC_000010.10:g.73572286G>A , CM000672.1:g.73572286G>A	GRCh37
NC_000010.9:g.73242292G>A	NCBI36
NG_008835.1:g.420583G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9430G>A MANE Select	NP_071407.4:p.Ala3144Thr
ENST00000224721.12:c.9430G>A MANE Select	ENSP00000224721.9:p.Ala3144Thr
NM_001171933.1:c.2710G>A	NP_001165404.1:p.Ala904Thr
NM_001171934.1:c.2710G>A	NP_001165405.1:p.Ala904Thr
NM_001171935.1:c.121G>A	NP_001165406.1:p.Ala41Thr
NM_001171936.1:c.121G>A	NP_001165407.1:p.Ala41Thr
NM_022124.5:c.9430G>A	NP_071407.4:p.Ala3144Thr
ENST00000224721.10:c.9445G>A	ENSP00000224721.8:p.Ala3149Thr
ENST00000398788.4:c.2710G>A	ENSP00000381768.3:p.Ala904Thr
ENST00000475158.1:n.2966G>A
ENST00000619887.4:c.2710G>A	ENSP00000478374.1:p.Ala904Thr
ENST00000622827.4:c.9430G>A	ENSP00000483211.1:p.Ala3144Thr
ENST00000642965.1:c.3363G>A	ENSP00000495222.1:n.3363G>A
ENST00000647092.1:c.3027G>A	ENSP00000495176.1:n.3027G>A
XM_006717940.2:c.9625G>A	XP_006718003.1:p.Ala3209Thr
XM_006717942.2:c.9559G>A	XP_006718005.1:p.Ala3187Thr
XM_011540039.1:c.9622G>A	XP_011538341.1:p.Ala3208Thr
XM_011540040.1:c.9619G>A	XP_011538342.1:p.Ala3207Thr
XM_011540041.1:c.9565G>A	XP_011538343.1:p.Ala3189Thr
XM_011540042.1:c.9535G>A	XP_011538344.1:p.Ala3179Thr
XM_011540043.1:c.9625G>A	XP_011538345.1:p.Ala3209Thr
XM_011540044.1:c.9490G>A	XP_011538346.1:p.Ala3164Thr
XM_011540045.1:c.9625G>A	XP_011538347.1:p.Ala3209Thr
XM_011540046.1:c.9085G>A	XP_011538348.1:p.Ala3029Thr
XM_011540047.1:c.8443G>A	XP_011538349.1:p.Ala2815Thr
XM_011540052.1:c.5953G>A	XP_011538354.1:p.Ala1985Thr