Canonical Allele Identifier: CA5546793

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71810011G>A , CM000672.2:g.71810011G>A	GRCh38
NC_000010.10:g.73569768G>A , CM000672.1:g.73569768G>A	GRCh37
NC_000010.9:g.73239774G>A	NCBI36
NG_008835.1:g.418065G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8914G>A MANE Select	NP_071407.4:p.Glu2972Lys
ENST00000224721.12:c.8914G>A MANE Select	ENSP00000224721.9:p.Glu2972Lys
NM_001171933.1:c.2194G>A	NP_001165404.1:p.Glu732Lys
NM_001171934.1:c.2194G>A	NP_001165405.1:p.Glu732Lys
NM_022124.5:c.8914G>A	NP_071407.4:p.Glu2972Lys
ENST00000224721.10:c.8929G>A	ENSP00000224721.8:p.Glu2977Lys
ENST00000398788.4:c.2194G>A	ENSP00000381768.3:p.Glu732Lys
ENST00000475158.1:n.2450G>A
ENST00000619887.4:c.2194G>A	ENSP00000478374.1:p.Glu732Lys
ENST00000622827.4:c.8914G>A	ENSP00000483211.1:p.Glu2972Lys
ENST00000642965.1:c.2847G>A	ENSP00000495222.1:n.2847G>A
ENST00000647092.1:c.2511G>A	ENSP00000495176.1:n.2511G>A
XM_006717940.2:c.9109G>A	XP_006718003.1:p.Glu3037Lys
XM_006717942.2:c.9043G>A	XP_006718005.1:p.Glu3015Lys
XM_011540039.1:c.9106G>A	XP_011538341.1:p.Glu3036Lys
XM_011540040.1:c.9103G>A	XP_011538342.1:p.Glu3035Lys
XM_011540041.1:c.9049G>A	XP_011538343.1:p.Glu3017Lys
XM_011540042.1:c.9019G>A	XP_011538344.1:p.Glu3007Lys
XM_011540043.1:c.9109G>A	XP_011538345.1:p.Glu3037Lys
XM_011540044.1:c.8974G>A	XP_011538346.1:p.Glu2992Lys
XM_011540045.1:c.9109G>A	XP_011538347.1:p.Glu3037Lys
XM_011540046.1:c.8569G>A	XP_011538348.1:p.Glu2857Lys
XM_011540047.1:c.7927G>A	XP_011538349.1:p.Glu2643Lys
XM_011540052.1:c.5437G>A	XP_011538354.1:p.Glu1813Lys