Canonical Allele Identifier: CA5546223

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1116792
• ClinVar RCV Id: RCV001445301
• dbSNP Id: rs765133274
• ExAC: 10:73558208 C / A
• gnomAD v2: 10-73558208-C-A
• gnomAD v3: 10-71798451-C-A
• gnomAD v4: 10-71798451-C-A
• MyVariant Identifiers: chr10:g.73558208C>A (hg19) ; chr10:g.71798451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798451C>A , CM000672.2:g.71798451C>A	GRCh38
NC_000010.10:g.73558208C>A , CM000672.1:g.73558208C>A	GRCh37
NC_000010.9:g.73228214C>A	NCBI36
NG_008835.1:g.406505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6927C>A MANE Select	ENSP00000224721.9:p.Ala2309=
ENST00000642965.1:c.860C>A	ENSP00000495222.1:n.860C>A
ENST00000647092.1:c.524C>A	ENSP00000495176.1:n.524C>A
ENST00000224721.10:c.6942C>A	ENSP00000224721.8:p.Ala2314=
ENST00000398788.4:c.207C>A	ENSP00000381768.3:p.Ala69=
ENST00000475158.1:n.463C>A
ENST00000619887.4:c.207C>A	ENSP00000478374.1:p.Ala69=
ENST00000622827.4:c.6927C>A	ENSP00000483211.1:p.Ala2309=
NM_001171933.1:c.207C>A	NP_001165404.1:p.Ala69=
NM_001171934.1:c.207C>A	NP_001165405.1:p.Ala69=
NM_022124.5:c.6927C>A	NP_071407.4:p.Ala2309=
XM_006717940.2:c.7122C>A	XP_006718003.1:p.Ala2374=
XM_006717942.2:c.7056C>A	XP_006718005.1:p.Ala2352=
XM_011540039.1:c.7119C>A	XP_011538341.1:p.Ala2373=
XM_011540040.1:c.7116C>A	XP_011538342.1:p.Ala2372=
XM_011540041.1:c.7062C>A	XP_011538343.1:p.Ala2354=
XM_011540042.1:c.7032C>A	XP_011538344.1:p.Ala2344=
XM_011540043.1:c.7122C>A	XP_011538345.1:p.Ala2374=
XM_011540044.1:c.6987C>A	XP_011538346.1:p.Ala2329=
XM_011540045.1:c.7122C>A	XP_011538347.1:p.Ala2374=
XM_011540046.1:c.6582C>A	XP_011538348.1:p.Ala2194=
XM_011540047.1:c.5940C>A	XP_011538349.1:p.Ala1980=
XM_011540052.1:c.3450C>A	XP_011538354.1:p.Ala1150=
NM_022124.6:c.6927C>A MANE Select	NP_071407.4:p.Ala2309=