Canonical Allele Identifier: CA5546237

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798574G>A , CM000672.2:g.71798574G>A	GRCh38
NC_000010.10:g.73558331G>A , CM000672.1:g.73558331G>A	GRCh37
NC_000010.9:g.73228337G>A	NCBI36
NG_008835.1:g.406628G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7050G>A MANE Select	NP_071407.4:p.Ser2350=
ENST00000224721.12:c.7050G>A MANE Select	ENSP00000224721.9:p.Ser2350=
NM_001171933.1:c.330G>A	NP_001165404.1:p.Ser110=
NM_001171934.1:c.330G>A	NP_001165405.1:p.Ser110=
NM_022124.5:c.7050G>A	NP_071407.4:p.Ser2350=
ENST00000224721.10:c.7065G>A	ENSP00000224721.8:p.Ser2355=
ENST00000398788.4:c.330G>A	ENSP00000381768.3:p.Ser110=
ENST00000475158.1:n.586G>A
ENST00000619887.4:c.330G>A	ENSP00000478374.1:p.Ser110=
ENST00000622827.4:c.7050G>A	ENSP00000483211.1:p.Ser2350=
ENST00000642965.1:c.983G>A	ENSP00000495222.1:n.983G>A
ENST00000647092.1:c.647G>A	ENSP00000495176.1:n.647G>A
XM_006717940.2:c.7245G>A	XP_006718003.1:p.Ser2415=
XM_006717942.2:c.7179G>A	XP_006718005.1:p.Ser2393=
XM_011540039.1:c.7242G>A	XP_011538341.1:p.Ser2414=
XM_011540040.1:c.7239G>A	XP_011538342.1:p.Ser2413=
XM_011540041.1:c.7185G>A	XP_011538343.1:p.Ser2395=
XM_011540042.1:c.7155G>A	XP_011538344.1:p.Ser2385=
XM_011540043.1:c.7245G>A	XP_011538345.1:p.Ser2415=
XM_011540044.1:c.7110G>A	XP_011538346.1:p.Ser2370=
XM_011540045.1:c.7245G>A	XP_011538347.1:p.Ser2415=
XM_011540046.1:c.6705G>A	XP_011538348.1:p.Ser2235=
XM_011540047.1:c.6063G>A	XP_011538349.1:p.Ser2021=
XM_011540052.1:c.3573G>A	XP_011538354.1:p.Ser1191=