Canonical Allele Identifier: CA5545813

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784972G>A , CM000672.2:g.71784972G>A	GRCh38
NC_000010.10:g.73544729G>A , CM000672.1:g.73544729G>A	GRCh37
NC_000010.9:g.73214735G>A	NCBI36
NG_008835.1:g.393026G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.5584G>A MANE Select	NP_071407.4:p.Glu1862Lys
ENST00000224721.12:c.5584G>A MANE Select	ENSP00000224721.9:p.Glu1862Lys
NM_022124.5:c.5584G>A	NP_071407.4:p.Glu1862Lys
ENST00000224721.10:c.5599G>A	ENSP00000224721.8:p.Glu1867Lys
ENST00000622827.4:c.5584G>A	ENSP00000483211.1:p.Glu1862Lys
XM_006717940.2:c.5779G>A	XP_006718003.1:p.Glu1927Lys
XM_006717942.2:c.5713G>A	XP_006718005.1:p.Glu1905Lys
XM_011540039.1:c.5776G>A	XP_011538341.1:p.Glu1926Lys
XM_011540040.1:c.5773G>A	XP_011538342.1:p.Glu1925Lys
XM_011540041.1:c.5719G>A	XP_011538343.1:p.Glu1907Lys
XM_011540042.1:c.5779G>A	XP_011538344.1:p.Glu1927Lys
XM_011540043.1:c.5779G>A	XP_011538345.1:p.Glu1927Lys
XM_011540044.1:c.5644G>A	XP_011538346.1:p.Glu1882Lys
XM_011540045.1:c.5779G>A	XP_011538347.1:p.Glu1927Lys
XM_011540046.1:c.5239G>A	XP_011538348.1:p.Glu1747Lys
XM_011540047.1:c.4597G>A	XP_011538349.1:p.Glu1533Lys
XM_011540048.1:c.5779G>A	XP_011538350.1:p.Glu1927Lys
XM_011540049.1:c.5779G>A	XP_011538351.1:p.Glu1927Lys
XM_011540050.1:c.5779G>A	XP_011538352.1:p.Glu1927Lys
XM_011540051.1:c.5779G>A	XP_011538353.1:p.Glu1927Lys
XM_011540052.1:c.2107G>A	XP_011538354.1:p.Glu703Lys
XM_011540053.1:c.5779G>A	XP_011538355.1:p.Glu1927Lys
XR_945796.1:n.6022G>A