Canonical Allele Identifier: CA377158480

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73558320G>A (hg19) ; chr10:g.71798563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798563G>A , CM000672.2:g.71798563G>A	GRCh38
NC_000010.10:g.73558320G>A , CM000672.1:g.73558320G>A	GRCh37
NC_000010.9:g.73228326G>A	NCBI36
NG_008835.1:g.406617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7039G>A MANE Select	ENSP00000224721.9:p.Glu2347Lys
ENST00000642965.1:c.972G>A	ENSP00000495222.1:n.972G>A
ENST00000647092.1:c.636G>A	ENSP00000495176.1:n.636G>A
ENST00000224721.10:c.7054G>A	ENSP00000224721.8:p.Glu2352Lys
ENST00000398788.4:c.319G>A	ENSP00000381768.3:p.Glu107Lys
ENST00000475158.1:n.575G>A
ENST00000619887.4:c.319G>A	ENSP00000478374.1:p.Glu107Lys
ENST00000622827.4:c.7039G>A	ENSP00000483211.1:p.Glu2347Lys
NM_001171933.1:c.319G>A	NP_001165404.1:p.Glu107Lys
NM_001171934.1:c.319G>A	NP_001165405.1:p.Glu107Lys
NM_022124.5:c.7039G>A	NP_071407.4:p.Glu2347Lys
XM_006717940.2:c.7234G>A	XP_006718003.1:p.Glu2412Lys
XM_006717942.2:c.7168G>A	XP_006718005.1:p.Glu2390Lys
XM_011540039.1:c.7231G>A	XP_011538341.1:p.Glu2411Lys
XM_011540040.1:c.7228G>A	XP_011538342.1:p.Glu2410Lys
XM_011540041.1:c.7174G>A	XP_011538343.1:p.Glu2392Lys
XM_011540042.1:c.7144G>A	XP_011538344.1:p.Glu2382Lys
XM_011540043.1:c.7234G>A	XP_011538345.1:p.Glu2412Lys
XM_011540044.1:c.7099G>A	XP_011538346.1:p.Glu2367Lys
XM_011540045.1:c.7234G>A	XP_011538347.1:p.Glu2412Lys
XM_011540046.1:c.6694G>A	XP_011538348.1:p.Glu2232Lys
XM_011540047.1:c.6052G>A	XP_011538349.1:p.Glu2018Lys
XM_011540052.1:c.3562G>A	XP_011538354.1:p.Glu1188Lys
NM_022124.6:c.7039G>A MANE Select	NP_071407.4:p.Glu2347Lys