Canonical Allele Identifier: CA137550

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798371G>A , CM000672.2:g.71798371G>A	GRCh38
NC_000010.10:g.73558128G>A , CM000672.1:g.73558128G>A	GRCh37
NC_000010.9:g.73228134G>A	NCBI36
NG_008835.1:g.406425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6847G>A MANE Select	ENSP00000224721.9:p.Val2283Ile
ENST00000642965.1:c.780G>A	ENSP00000495222.1:n.780G>A
ENST00000647092.1:c.444G>A	ENSP00000495176.1:n.444G>A
ENST00000224721.10:c.6862G>A	ENSP00000224721.8:p.Val2288Ile
ENST00000398788.4:c.127G>A	ENSP00000381768.3:p.Val43Ile
ENST00000475158.1:n.383G>A
ENST00000619887.4:c.127G>A	ENSP00000478374.1:p.Val43Ile
ENST00000622827.4:c.6847G>A	ENSP00000483211.1:p.Val2283Ile
NM_001171933.1:c.127G>A	NP_001165404.1:p.Val43Ile
NM_001171934.1:c.127G>A	NP_001165405.1:p.Val43Ile
NM_022124.5:c.6847G>A	NP_071407.4:p.Val2283Ile
XM_006717940.2:c.7042G>A	XP_006718003.1:p.Val2348Ile
XM_006717942.2:c.6976G>A	XP_006718005.1:p.Val2326Ile
XM_011540039.1:c.7039G>A	XP_011538341.1:p.Val2347Ile
XM_011540040.1:c.7036G>A	XP_011538342.1:p.Val2346Ile
XM_011540041.1:c.6982G>A	XP_011538343.1:p.Val2328Ile
XM_011540042.1:c.6952G>A	XP_011538344.1:p.Val2318Ile
XM_011540043.1:c.7042G>A	XP_011538345.1:p.Val2348Ile
XM_011540044.1:c.6907G>A	XP_011538346.1:p.Val2303Ile
XM_011540045.1:c.7042G>A	XP_011538347.1:p.Val2348Ile
XM_011540046.1:c.6502G>A	XP_011538348.1:p.Val2168Ile
XM_011540047.1:c.5860G>A	XP_011538349.1:p.Val1954Ile
XM_011540052.1:c.3370G>A	XP_011538354.1:p.Val1124Ile
NM_022124.6:c.6847G>A MANE Select	NP_071407.4:p.Val2283Ile