Canonical Allele Identifier: CA5545644

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71778222G>A , CM000672.2:g.71778222G>A	GRCh38
NC_000010.10:g.73537979G>A , CM000672.1:g.73537979G>A	GRCh37
NC_000010.9:g.73207985G>A	NCBI36
NG_008835.1:g.386276G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.5101G>A MANE Select	NP_071407.4:p.Glu1701Lys
ENST00000224721.12:c.5101G>A MANE Select	ENSP00000224721.9:p.Glu1701Lys
NM_022124.5:c.5101G>A	NP_071407.4:p.Glu1701Lys
ENST00000224721.10:c.5116G>A	ENSP00000224721.8:p.Glu1706Lys
ENST00000622827.4:c.5101G>A	ENSP00000483211.1:p.Glu1701Lys
XM_006717940.2:c.5296G>A	XP_006718003.1:p.Glu1766Lys
XM_006717942.2:c.5230G>A	XP_006718005.1:p.Glu1744Lys
XM_011540039.1:c.5293G>A	XP_011538341.1:p.Glu1765Lys
XM_011540040.1:c.5290G>A	XP_011538342.1:p.Glu1764Lys
XM_011540041.1:c.5236G>A	XP_011538343.1:p.Glu1746Lys
XM_011540042.1:c.5296G>A	XP_011538344.1:p.Glu1766Lys
XM_011540043.1:c.5296G>A	XP_011538345.1:p.Glu1766Lys
XM_011540044.1:c.5161G>A	XP_011538346.1:p.Glu1721Lys
XM_011540045.1:c.5296G>A	XP_011538347.1:p.Glu1766Lys
XM_011540046.1:c.4756G>A	XP_011538348.1:p.Glu1586Lys
XM_011540047.1:c.4114G>A	XP_011538349.1:p.Glu1372Lys
XM_011540048.1:c.5296G>A	XP_011538350.1:p.Glu1766Lys
XM_011540049.1:c.5296G>A	XP_011538351.1:p.Glu1766Lys
XM_011540050.1:c.5296G>A	XP_011538352.1:p.Glu1766Lys
XM_011540051.1:c.5296G>A	XP_011538353.1:p.Glu1766Lys
XM_011540052.1:c.1624G>A	XP_011538354.1:p.Glu542Lys
XM_011540053.1:c.5296G>A	XP_011538355.1:p.Glu1766Lys
XR_945796.1:n.5539G>A