Canonical Allele Identifier: CA5546097

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793440G>A , CM000672.2:g.71793440G>A	GRCh38
NC_000010.10:g.73553197G>A , CM000672.1:g.73553197G>A	GRCh37
NC_000010.9:g.73223203G>A	NCBI36
NG_008835.1:g.401494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.6512G>A MANE Select	NP_071407.4:p.Arg2171His
ENST00000224721.12:c.6512G>A MANE Select	ENSP00000224721.9:p.Arg2171His
NM_022124.5:c.6512G>A	NP_071407.4:p.Arg2171His
ENST00000224721.10:c.6527G>A	ENSP00000224721.8:p.Arg2176His
ENST00000622827.4:c.6512G>A	ENSP00000483211.1:p.Arg2171His
XM_006717940.2:c.6707G>A	XP_006718003.1:p.Arg2236His
XM_006717942.2:c.6641G>A	XP_006718005.1:p.Arg2214His
XM_011540039.1:c.6704G>A	XP_011538341.1:p.Arg2235His
XM_011540040.1:c.6701G>A	XP_011538342.1:p.Arg2234His
XM_011540041.1:c.6647G>A	XP_011538343.1:p.Arg2216His
XM_011540042.1:c.6617G>A	XP_011538344.1:p.Arg2206His
XM_011540043.1:c.6707G>A	XP_011538345.1:p.Arg2236His
XM_011540044.1:c.6572G>A	XP_011538346.1:p.Arg2191His
XM_011540045.1:c.6707G>A	XP_011538347.1:p.Arg2236His
XM_011540046.1:c.6167G>A	XP_011538348.1:p.Arg2056His
XM_011540047.1:c.5525G>A	XP_011538349.1:p.Arg1842His
XM_011540048.1:c.6707G>A	XP_011538350.1:p.Arg2236His
XM_011540049.1:c.6707G>A	XP_011538351.1:p.Arg2236His
XM_011540050.1:c.6707G>A	XP_011538352.1:p.Arg2236His
XM_011540051.1:c.6707G>A	XP_011538353.1:p.Arg2236His
XM_011540052.1:c.3035G>A	XP_011538354.1:p.Arg1012His
XR_945796.1:n.6950G>A