Canonical Allele Identifier: CA5546937

Gene: CDH23

Linked Data

• ClinVar Variation Id: 226501
• ClinVar RCV Id: RCV000223358 ; RCV000911027 ; RCV001103166 ; RCV001103167 ; RCV001828054
• dbSNP Id: rs369395479
• ExAC: 10:73571307 G / A
• gnomAD v2: 10-73571307-G-A
• gnomAD v3: 10-71811550-G-A
• gnomAD v4: 10-71811550-G-A
• MyVariant Identifiers: chr10:g.73571307G>A (hg19) ; chr10:g.71811550G>A (hg38)
• PubMed: PMID:22135276 ; PMID:24767429

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71811550G>A , CM000672.2:g.71811550G>A	GRCh38
NC_000010.10:g.73571307G>A , CM000672.1:g.73571307G>A	GRCh37
NC_000010.9:g.73241313G>A	NCBI36
NG_008835.1:g.419604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.9238G>A MANE Select	ENSP00000224721.9:p.Ala3080Thr
ENST00000642965.1:c.3171G>A	ENSP00000495222.1:n.3171G>A
ENST00000647092.1:c.2835G>A	ENSP00000495176.1:n.2835G>A
ENST00000224721.10:c.9253G>A	ENSP00000224721.8:p.Ala3085Thr
ENST00000398788.4:c.2518G>A	ENSP00000381768.3:p.Ala840Thr
ENST00000475158.1:n.2774G>A
ENST00000619887.4:c.2518G>A	ENSP00000478374.1:p.Ala840Thr
ENST00000622827.4:c.9238G>A	ENSP00000483211.1:p.Ala3080Thr
NM_001171933.1:c.2518G>A	NP_001165404.1:p.Ala840Thr
NM_001171934.1:c.2518G>A	NP_001165405.1:p.Ala840Thr
NM_022124.5:c.9238G>A	NP_071407.4:p.Ala3080Thr
XM_006717940.2:c.9433G>A	XP_006718003.1:p.Ala3145Thr
XM_006717942.2:c.9367G>A	XP_006718005.1:p.Ala3123Thr
XM_011540039.1:c.9430G>A	XP_011538341.1:p.Ala3144Thr
XM_011540040.1:c.9427G>A	XP_011538342.1:p.Ala3143Thr
XM_011540041.1:c.9373G>A	XP_011538343.1:p.Ala3125Thr
XM_011540042.1:c.9343G>A	XP_011538344.1:p.Ala3115Thr
XM_011540043.1:c.9433G>A	XP_011538345.1:p.Ala3145Thr
XM_011540044.1:c.9298G>A	XP_011538346.1:p.Ala3100Thr
XM_011540045.1:c.9433G>A	XP_011538347.1:p.Ala3145Thr
XM_011540046.1:c.8893G>A	XP_011538348.1:p.Ala2965Thr
XM_011540047.1:c.8251G>A	XP_011538349.1:p.Ala2751Thr
XM_011540052.1:c.5761G>A	XP_011538354.1:p.Ala1921Thr
NM_022124.6:c.9238G>A MANE Select	NP_071407.4:p.Ala3080Thr