Canonical Allele Identifier: CA377155305

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793483G>T , CM000672.2:g.71793483G>T	GRCh38
NC_000010.10:g.73553240G>T , CM000672.1:g.73553240G>T	GRCh37
NC_000010.9:g.73223246G>T	NCBI36
NG_008835.1:g.401537G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.6555G>T MANE Select	NP_071407.4:p.Glu2185Asp
ENST00000224721.12:c.6555G>T MANE Select	ENSP00000224721.9:p.Glu2185Asp
NM_022124.5:c.6555G>T	NP_071407.4:p.Glu2185Asp
ENST00000224721.10:c.6570G>T	ENSP00000224721.8:p.Glu2190Asp
ENST00000622827.4:c.6555G>T	ENSP00000483211.1:p.Glu2185Asp
XM_006717940.2:c.6750G>T	XP_006718003.1:p.Glu2250Asp
XM_006717942.2:c.6684G>T	XP_006718005.1:p.Glu2228Asp
XM_011540039.1:c.6747G>T	XP_011538341.1:p.Glu2249Asp
XM_011540040.1:c.6744G>T	XP_011538342.1:p.Glu2248Asp
XM_011540041.1:c.6690G>T	XP_011538343.1:p.Glu2230Asp
XM_011540042.1:c.6660G>T	XP_011538344.1:p.Glu2220Asp
XM_011540043.1:c.6750G>T	XP_011538345.1:p.Glu2250Asp
XM_011540044.1:c.6615G>T	XP_011538346.1:p.Glu2205Asp
XM_011540045.1:c.6750G>T	XP_011538347.1:p.Glu2250Asp
XM_011540046.1:c.6210G>T	XP_011538348.1:p.Glu2070Asp
XM_011540047.1:c.5568G>T	XP_011538349.1:p.Glu1856Asp
XM_011540048.1:c.6750G>T	XP_011538350.1:p.Glu2250Asp
XM_011540049.1:c.6750G>T	XP_011538351.1:p.Glu2250Asp
XM_011540050.1:c.6750G>T	XP_011538352.1:p.Glu2250Asp
XM_011540051.1:c.6750G>T	XP_011538353.1:p.Glu2250Asp
XM_011540052.1:c.3078G>T	XP_011538354.1:p.Glu1026Asp
XR_945796.1:n.6993G>T