Canonical Allele Identifier: CA377134612

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71811358C>G , CM000672.2:g.71811358C>G	GRCh38
NC_000010.10:g.73571115C>G , CM000672.1:g.73571115C>G	GRCh37
NC_000010.9:g.73241121C>G	NCBI36
NG_008835.1:g.419412C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9121C>G MANE Select	NP_071407.4:p.Leu3041Val
ENST00000224721.12:c.9121C>G MANE Select	ENSP00000224721.9:p.Leu3041Val
NM_001171933.1:c.2401C>G	NP_001165404.1:p.Leu801Val
NM_001171934.1:c.2401C>G	NP_001165405.1:p.Leu801Val
NM_022124.5:c.9121C>G	NP_071407.4:p.Leu3041Val
ENST00000224721.10:c.9136C>G	ENSP00000224721.8:p.Leu3046Val
ENST00000398788.4:c.2401C>G	ENSP00000381768.3:p.Leu801Val
ENST00000475158.1:n.2657C>G
ENST00000619887.4:c.2401C>G	ENSP00000478374.1:p.Leu801Val
ENST00000622827.4:c.9121C>G	ENSP00000483211.1:p.Leu3041Val
ENST00000642965.1:c.3054C>G	ENSP00000495222.1:n.3054C>G
ENST00000647092.1:c.2718C>G	ENSP00000495176.1:n.2718C>G
XM_006717940.2:c.9316C>G	XP_006718003.1:p.Leu3106Val
XM_006717942.2:c.9250C>G	XP_006718005.1:p.Leu3084Val
XM_011540039.1:c.9313C>G	XP_011538341.1:p.Leu3105Val
XM_011540040.1:c.9310C>G	XP_011538342.1:p.Leu3104Val
XM_011540041.1:c.9256C>G	XP_011538343.1:p.Leu3086Val
XM_011540042.1:c.9226C>G	XP_011538344.1:p.Leu3076Val
XM_011540043.1:c.9316C>G	XP_011538345.1:p.Leu3106Val
XM_011540044.1:c.9181C>G	XP_011538346.1:p.Leu3061Val
XM_011540045.1:c.9316C>G	XP_011538347.1:p.Leu3106Val
XM_011540046.1:c.8776C>G	XP_011538348.1:p.Leu2926Val
XM_011540047.1:c.8134C>G	XP_011538349.1:p.Leu2712Val
XM_011540052.1:c.5644C>G	XP_011538354.1:p.Leu1882Val