Canonical Allele Identifier: CA5545035

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71739674G>T , CM000672.2:g.71739674G>T	GRCh38
NC_000010.10:g.73499431G>T , CM000672.1:g.73499431G>T	GRCh37
NC_000010.9:g.73169437G>T	NCBI36
NG_008835.1:g.347728G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.4390G>T MANE Select	NP_071407.4:p.Ala1464Ser
ENST00000224721.12:c.4390G>T MANE Select	ENSP00000224721.9:p.Ala1464Ser
NM_022124.5:c.4390G>T	NP_071407.4:p.Ala1464Ser
ENST00000224721.10:c.4405G>T	ENSP00000224721.8:p.Ala1469Ser
ENST00000398792.3:n.1079G>T
ENST00000622827.4:c.4390G>T	ENSP00000483211.1:p.Ala1464Ser
XM_006717940.2:c.4585G>T	XP_006718003.1:p.Ala1529Ser
XM_006717942.2:c.4519G>T	XP_006718005.1:p.Ala1507Ser
XM_011540039.1:c.4582G>T	XP_011538341.1:p.Ala1528Ser
XM_011540040.1:c.4579G>T	XP_011538342.1:p.Ala1527Ser
XM_011540041.1:c.4525G>T	XP_011538343.1:p.Ala1509Ser
XM_011540042.1:c.4585G>T	XP_011538344.1:p.Ala1529Ser
XM_011540043.1:c.4585G>T	XP_011538345.1:p.Ala1529Ser
XM_011540044.1:c.4450G>T	XP_011538346.1:p.Ala1484Ser
XM_011540045.1:c.4585G>T	XP_011538347.1:p.Ala1529Ser
XM_011540046.1:c.4045G>T	XP_011538348.1:p.Ala1349Ser
XM_011540047.1:c.3403G>T	XP_011538349.1:p.Ala1135Ser
XM_011540048.1:c.4585G>T	XP_011538350.1:p.Ala1529Ser
XM_011540049.1:c.4585G>T	XP_011538351.1:p.Ala1529Ser
XM_011540050.1:c.4585G>T	XP_011538352.1:p.Ala1529Ser
XM_011540051.1:c.4585G>T	XP_011538353.1:p.Ala1529Ser
XM_011540052.1:c.913G>T	XP_011538354.1:p.Ala305Ser
XM_011540053.1:c.4585G>T	XP_011538355.1:p.Ala1529Ser
XR_945796.1:n.4828G>T