Canonical Allele Identifier: CA5546477

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71805836G>T , CM000672.2:g.71805836G>T	GRCh38
NC_000010.10:g.73565593G>T , CM000672.1:g.73565593G>T	GRCh37
NC_000010.9:g.73235599G>T	NCBI36
NG_008835.1:g.413890G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7903G>T MANE Select	NP_071407.4:p.Val2635Phe
ENST00000224721.12:c.7903G>T MANE Select	ENSP00000224721.9:p.Val2635Phe
NM_001171933.1:c.1183G>T	NP_001165404.1:p.Val395Phe
NM_001171934.1:c.1183G>T	NP_001165405.1:p.Val395Phe
NM_022124.5:c.7903G>T	NP_071407.4:p.Val2635Phe
ENST00000224721.10:c.7918G>T	ENSP00000224721.8:p.Val2640Phe
ENST00000398788.4:c.1183G>T	ENSP00000381768.3:p.Val395Phe
ENST00000475158.1:n.1439G>T
ENST00000619887.4:c.1183G>T	ENSP00000478374.1:p.Val395Phe
ENST00000622827.4:c.7903G>T	ENSP00000483211.1:p.Val2635Phe
ENST00000642965.1:c.1836G>T	ENSP00000495222.1:n.1836G>T
ENST00000647092.1:c.1500G>T	ENSP00000495176.1:n.1500G>T
XM_006717940.2:c.8098G>T	XP_006718003.1:p.Val2700Phe
XM_006717942.2:c.8032G>T	XP_006718005.1:p.Val2678Phe
XM_011540039.1:c.8095G>T	XP_011538341.1:p.Val2699Phe
XM_011540040.1:c.8092G>T	XP_011538342.1:p.Val2698Phe
XM_011540041.1:c.8038G>T	XP_011538343.1:p.Val2680Phe
XM_011540042.1:c.8008G>T	XP_011538344.1:p.Val2670Phe
XM_011540043.1:c.8098G>T	XP_011538345.1:p.Val2700Phe
XM_011540044.1:c.7963G>T	XP_011538346.1:p.Val2655Phe
XM_011540045.1:c.8098G>T	XP_011538347.1:p.Val2700Phe
XM_011540046.1:c.7558G>T	XP_011538348.1:p.Val2520Phe
XM_011540047.1:c.6916G>T	XP_011538349.1:p.Val2306Phe
XM_011540052.1:c.4426G>T	XP_011538354.1:p.Val1476Phe