Canonical Allele Identifier: CA5545137

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71741815G>A , CM000672.2:g.71741815G>A	GRCh38
NC_000010.10:g.73501572G>A , CM000672.1:g.73501572G>A	GRCh37
NC_000010.9:g.73171578G>A	NCBI36
NG_008835.1:g.349869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4739G>A MANE Select	ENSP00000224721.9:p.Arg1580His
ENST00000224721.10:c.4754G>A	ENSP00000224721.8:p.Arg1585His
ENST00000398792.3:n.1428G>A
ENST00000622827.4:c.4739G>A	ENSP00000483211.1:p.Arg1580His
NM_022124.5:c.4739G>A	NP_071407.4:p.Arg1580His
XM_006717940.2:c.4934G>A	XP_006718003.1:p.Arg1645His
XM_006717942.2:c.4868G>A	XP_006718005.1:p.Arg1623His
XM_011540039.1:c.4931G>A	XP_011538341.1:p.Arg1644His
XM_011540040.1:c.4928G>A	XP_011538342.1:p.Arg1643His
XM_011540041.1:c.4874G>A	XP_011538343.1:p.Arg1625His
XM_011540042.1:c.4934G>A	XP_011538344.1:p.Arg1645His
XM_011540043.1:c.4934G>A	XP_011538345.1:p.Arg1645His
XM_011540044.1:c.4799G>A	XP_011538346.1:p.Arg1600His
XM_011540045.1:c.4934G>A	XP_011538347.1:p.Arg1645His
XM_011540046.1:c.4394G>A	XP_011538348.1:p.Arg1465His
XM_011540047.1:c.3752G>A	XP_011538349.1:p.Arg1251His
XM_011540048.1:c.4934G>A	XP_011538350.1:p.Arg1645His
XM_011540049.1:c.4934G>A	XP_011538351.1:p.Arg1645His
XM_011540050.1:c.4934G>A	XP_011538352.1:p.Arg1645His
XM_011540051.1:c.4934G>A	XP_011538353.1:p.Arg1645His
XM_011540052.1:c.1262G>A	XP_011538354.1:p.Arg421His
XM_011540053.1:c.4934G>A	XP_011538355.1:p.Arg1645His
XR_945796.1:n.5177G>A
NM_022124.6:c.4739G>A MANE Select	NP_071407.4:p.Arg1580His