Canonical Allele Identifier: CA5545080

Gene: CDH23

Linked Data

• dbSNP Id: rs774355776
• ExAC: 10:73500595 G / A
• gnomAD v2: 10-73500595-G-A
• gnomAD v4: 10-71740838-G-A
• COSMIC: COSM920136
• MyVariant Identifiers: chr10:g.73500595G>A (hg19) ; chr10:g.71740838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740838G>A , CM000672.2:g.71740838G>A	GRCh38
NC_000010.10:g.73500595G>A , CM000672.1:g.73500595G>A	GRCh37
NC_000010.9:g.73170601G>A	NCBI36
NG_008835.1:g.348892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4505G>A MANE Select	ENSP00000224721.9:p.Arg1502Gln
ENST00000224721.10:c.4520G>A	ENSP00000224721.8:p.Arg1507Gln
ENST00000398792.3:n.1194G>A
ENST00000622827.4:c.4505G>A	ENSP00000483211.1:p.Arg1502Gln
NM_022124.5:c.4505G>A	NP_071407.4:p.Arg1502Gln
XM_006717940.2:c.4700G>A	XP_006718003.1:p.Arg1567Gln
XM_006717942.2:c.4634G>A	XP_006718005.1:p.Arg1545Gln
XM_011540039.1:c.4697G>A	XP_011538341.1:p.Arg1566Gln
XM_011540040.1:c.4694G>A	XP_011538342.1:p.Arg1565Gln
XM_011540041.1:c.4640G>A	XP_011538343.1:p.Arg1547Gln
XM_011540042.1:c.4700G>A	XP_011538344.1:p.Arg1567Gln
XM_011540043.1:c.4700G>A	XP_011538345.1:p.Arg1567Gln
XM_011540044.1:c.4565G>A	XP_011538346.1:p.Arg1522Gln
XM_011540045.1:c.4700G>A	XP_011538347.1:p.Arg1567Gln
XM_011540046.1:c.4160G>A	XP_011538348.1:p.Arg1387Gln
XM_011540047.1:c.3518G>A	XP_011538349.1:p.Arg1173Gln
XM_011540048.1:c.4700G>A	XP_011538350.1:p.Arg1567Gln
XM_011540049.1:c.4700G>A	XP_011538351.1:p.Arg1567Gln
XM_011540050.1:c.4700G>A	XP_011538352.1:p.Arg1567Gln
XM_011540051.1:c.4700G>A	XP_011538353.1:p.Arg1567Gln
XM_011540052.1:c.1028G>A	XP_011538354.1:p.Arg343Gln
XM_011540053.1:c.4700G>A	XP_011538355.1:p.Arg1567Gln
XR_945796.1:n.4943G>A
NM_022124.6:c.4505G>A MANE Select	NP_071407.4:p.Arg1502Gln