Canonical Allele Identifier: CA261799

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803324G>A , CM000672.2:g.71803324G>A	GRCh38
NC_000010.10:g.73563081G>A , CM000672.1:g.73563081G>A	GRCh37
NC_000010.9:g.73233087G>A	NCBI36
NG_008835.1:g.411378G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7776G>A MANE Select	NP_071407.4:p.Trp2592Ter
ENST00000224721.12:c.7776G>A MANE Select	ENSP00000224721.9:p.Trp2592Ter
NM_001171933.1:c.1056G>A	NP_001165404.1:p.Trp352Ter
NM_001171934.1:c.1056G>A	NP_001165405.1:p.Trp352Ter
NM_022124.5:c.7776G>A	NP_071407.4:p.Trp2592Ter
ENST00000224721.10:c.7791G>A	ENSP00000224721.8:p.Trp2597Ter
ENST00000398788.4:c.1056G>A	ENSP00000381768.3:p.Trp352Ter
ENST00000475158.1:n.1312G>A
ENST00000619887.4:c.1056G>A	ENSP00000478374.1:p.Trp352Ter
ENST00000622827.4:c.7776G>A	ENSP00000483211.1:p.Trp2592Ter
ENST00000642965.1:c.1709G>A	ENSP00000495222.1:n.1709G>A
ENST00000647092.1:c.1373G>A	ENSP00000495176.1:n.1373G>A
XM_006717940.2:c.7971G>A	XP_006718003.1:p.Trp2657Ter
XM_006717942.2:c.7905G>A	XP_006718005.1:p.Trp2635Ter
XM_011540039.1:c.7968G>A	XP_011538341.1:p.Trp2656Ter
XM_011540040.1:c.7965G>A	XP_011538342.1:p.Trp2655Ter
XM_011540041.1:c.7911G>A	XP_011538343.1:p.Trp2637Ter
XM_011540042.1:c.7881G>A	XP_011538344.1:p.Trp2627Ter
XM_011540043.1:c.7971G>A	XP_011538345.1:p.Trp2657Ter
XM_011540044.1:c.7836G>A	XP_011538346.1:p.Trp2612Ter
XM_011540045.1:c.7971G>A	XP_011538347.1:p.Trp2657Ter
XM_011540046.1:c.7431G>A	XP_011538348.1:p.Trp2477Ter
XM_011540047.1:c.6789G>A	XP_011538349.1:p.Trp2263Ter
XM_011540052.1:c.4299G>A	XP_011538354.1:p.Trp1433Ter