Canonical Allele Identifier: CA377135342

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71811559T>A , CM000672.2:g.71811559T>A	GRCh38
NC_000010.10:g.73571316T>A , CM000672.1:g.73571316T>A	GRCh37
NC_000010.9:g.73241322T>A	NCBI36
NG_008835.1:g.419613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.9247T>A MANE Select	ENSP00000224721.9:p.Phe3083Ile
ENST00000642965.1:c.3180T>A	ENSP00000495222.1:n.3180T>A
ENST00000647092.1:c.2844T>A	ENSP00000495176.1:n.2844T>A
ENST00000224721.10:c.9262T>A	ENSP00000224721.8:p.Phe3088Ile
ENST00000398788.4:c.2527T>A	ENSP00000381768.3:p.Phe843Ile
ENST00000475158.1:n.2783T>A
ENST00000619887.4:c.2527T>A	ENSP00000478374.1:p.Phe843Ile
ENST00000622827.4:c.9247T>A	ENSP00000483211.1:p.Phe3083Ile
NM_001171933.1:c.2527T>A	NP_001165404.1:p.Phe843Ile
NM_001171934.1:c.2527T>A	NP_001165405.1:p.Phe843Ile
NM_022124.5:c.9247T>A	NP_071407.4:p.Phe3083Ile
XM_006717940.2:c.9442T>A	XP_006718003.1:p.Phe3148Ile
XM_006717942.2:c.9376T>A	XP_006718005.1:p.Phe3126Ile
XM_011540039.1:c.9439T>A	XP_011538341.1:p.Phe3147Ile
XM_011540040.1:c.9436T>A	XP_011538342.1:p.Phe3146Ile
XM_011540041.1:c.9382T>A	XP_011538343.1:p.Phe3128Ile
XM_011540042.1:c.9352T>A	XP_011538344.1:p.Phe3118Ile
XM_011540043.1:c.9442T>A	XP_011538345.1:p.Phe3148Ile
XM_011540044.1:c.9307T>A	XP_011538346.1:p.Phe3103Ile
XM_011540045.1:c.9442T>A	XP_011538347.1:p.Phe3148Ile
XM_011540046.1:c.8902T>A	XP_011538348.1:p.Phe2968Ile
XM_011540047.1:c.8260T>A	XP_011538349.1:p.Phe2754Ile
XM_011540052.1:c.5770T>A	XP_011538354.1:p.Phe1924Ile
NM_022124.6:c.9247T>A MANE Select	NP_071407.4:p.Phe3083Ile