Canonical Allele Identifier: CA5545839

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2190644
• ClinVar RCV Id: RCV002616498
• dbSNP Id: rs530212154
• ExAC: 10:73544835 G / A
• gnomAD v2: 10-73544835-G-A
• gnomAD v3: 10-71785078-G-A
• gnomAD v4: 10-71785078-G-A
• MyVariant Identifiers: chr10:g.73544835G>A (hg19) ; chr10:g.71785078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785078G>A , CM000672.2:g.71785078G>A	GRCh38
NC_000010.10:g.73544835G>A , CM000672.1:g.73544835G>A	GRCh37
NC_000010.9:g.73214841G>A	NCBI36
NG_008835.1:g.393132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5690G>A MANE Select	ENSP00000224721.9:p.Arg1897Gln
ENST00000224721.10:c.5705G>A	ENSP00000224721.8:p.Arg1902Gln
ENST00000622827.4:c.5690G>A	ENSP00000483211.1:p.Arg1897Gln
NM_022124.5:c.5690G>A	NP_071407.4:p.Arg1897Gln
XM_006717940.2:c.5885G>A	XP_006718003.1:p.Arg1962Gln
XM_006717942.2:c.5819G>A	XP_006718005.1:p.Arg1940Gln
XM_011540039.1:c.5882G>A	XP_011538341.1:p.Arg1961Gln
XM_011540040.1:c.5879G>A	XP_011538342.1:p.Arg1960Gln
XM_011540041.1:c.5825G>A	XP_011538343.1:p.Arg1942Gln
XM_011540042.1:c.5885G>A	XP_011538344.1:p.Arg1962Gln
XM_011540043.1:c.5885G>A	XP_011538345.1:p.Arg1962Gln
XM_011540044.1:c.5750G>A	XP_011538346.1:p.Arg1917Gln
XM_011540045.1:c.5885G>A	XP_011538347.1:p.Arg1962Gln
XM_011540046.1:c.5345G>A	XP_011538348.1:p.Arg1782Gln
XM_011540047.1:c.4703G>A	XP_011538349.1:p.Arg1568Gln
XM_011540048.1:c.5885G>A	XP_011538350.1:p.Arg1962Gln
XM_011540049.1:c.5885G>A	XP_011538351.1:p.Arg1962Gln
XM_011540050.1:c.5885G>A	XP_011538352.1:p.Arg1962Gln
XM_011540051.1:c.5885G>A	XP_011538353.1:p.Arg1962Gln
XM_011540052.1:c.2213G>A	XP_011538354.1:p.Arg738Gln
XM_011540053.1:c.5885G>A	XP_011538355.1:p.Arg1962Gln
XR_945796.1:n.6128G>A
NM_022124.6:c.5690G>A MANE Select	NP_071407.4:p.Arg1897Gln