Canonical Allele Identifier: CA5545136

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71741814C>T , CM000672.2:g.71741814C>T	GRCh38
NC_000010.10:g.73501571C>T , CM000672.1:g.73501571C>T	GRCh37
NC_000010.9:g.73171577C>T	NCBI36
NG_008835.1:g.349868C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.4738C>T MANE Select	NP_071407.4:p.Arg1580Cys
ENST00000224721.12:c.4738C>T MANE Select	ENSP00000224721.9:p.Arg1580Cys
NM_022124.5:c.4738C>T	NP_071407.4:p.Arg1580Cys
ENST00000224721.10:c.4753C>T	ENSP00000224721.8:p.Arg1585Cys
ENST00000398792.3:n.1427C>T
ENST00000622827.4:c.4738C>T	ENSP00000483211.1:p.Arg1580Cys
XM_006717940.2:c.4933C>T	XP_006718003.1:p.Arg1645Cys
XM_006717942.2:c.4867C>T	XP_006718005.1:p.Arg1623Cys
XM_011540039.1:c.4930C>T	XP_011538341.1:p.Arg1644Cys
XM_011540040.1:c.4927C>T	XP_011538342.1:p.Arg1643Cys
XM_011540041.1:c.4873C>T	XP_011538343.1:p.Arg1625Cys
XM_011540042.1:c.4933C>T	XP_011538344.1:p.Arg1645Cys
XM_011540043.1:c.4933C>T	XP_011538345.1:p.Arg1645Cys
XM_011540044.1:c.4798C>T	XP_011538346.1:p.Arg1600Cys
XM_011540045.1:c.4933C>T	XP_011538347.1:p.Arg1645Cys
XM_011540046.1:c.4393C>T	XP_011538348.1:p.Arg1465Cys
XM_011540047.1:c.3751C>T	XP_011538349.1:p.Arg1251Cys
XM_011540048.1:c.4933C>T	XP_011538350.1:p.Arg1645Cys
XM_011540049.1:c.4933C>T	XP_011538351.1:p.Arg1645Cys
XM_011540050.1:c.4933C>T	XP_011538352.1:p.Arg1645Cys
XM_011540051.1:c.4933C>T	XP_011538353.1:p.Arg1645Cys
XM_011540052.1:c.1261C>T	XP_011538354.1:p.Arg421Cys
XM_011540053.1:c.4933C>T	XP_011538355.1:p.Arg1645Cys
XR_945796.1:n.5176C>T