Canonical Allele Identifier: CA377158531

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1984030
• ClinVar RCV Id: RCV002756717
• dbSNP Id: rs1260405745
• MyVariant Identifiers: chr10:g.73558332G>T (hg19) ; chr10:g.71798575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798575G>T , CM000672.2:g.71798575G>T	GRCh38
NC_000010.10:g.73558332G>T , CM000672.1:g.73558332G>T	GRCh37
NC_000010.9:g.73228338G>T	NCBI36
NG_008835.1:g.406629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7051G>T MANE Select	ENSP00000224721.9:p.Ala2351Ser
ENST00000642965.1:c.984G>T	ENSP00000495222.1:n.984G>T
ENST00000647092.1:c.648G>T	ENSP00000495176.1:n.648G>T
ENST00000224721.10:c.7066G>T	ENSP00000224721.8:p.Ala2356Ser
ENST00000398788.4:c.331G>T	ENSP00000381768.3:p.Ala111Ser
ENST00000475158.1:n.587G>T
ENST00000619887.4:c.331G>T	ENSP00000478374.1:p.Ala111Ser
ENST00000622827.4:c.7051G>T	ENSP00000483211.1:p.Ala2351Ser
NM_001171933.1:c.331G>T	NP_001165404.1:p.Ala111Ser
NM_001171934.1:c.331G>T	NP_001165405.1:p.Ala111Ser
NM_022124.5:c.7051G>T	NP_071407.4:p.Ala2351Ser
XM_006717940.2:c.7246G>T	XP_006718003.1:p.Ala2416Ser
XM_006717942.2:c.7180G>T	XP_006718005.1:p.Ala2394Ser
XM_011540039.1:c.7243G>T	XP_011538341.1:p.Ala2415Ser
XM_011540040.1:c.7240G>T	XP_011538342.1:p.Ala2414Ser
XM_011540041.1:c.7186G>T	XP_011538343.1:p.Ala2396Ser
XM_011540042.1:c.7156G>T	XP_011538344.1:p.Ala2386Ser
XM_011540043.1:c.7246G>T	XP_011538345.1:p.Ala2416Ser
XM_011540044.1:c.7111G>T	XP_011538346.1:p.Ala2371Ser
XM_011540045.1:c.7246G>T	XP_011538347.1:p.Ala2416Ser
XM_011540046.1:c.6706G>T	XP_011538348.1:p.Ala2236Ser
XM_011540047.1:c.6064G>T	XP_011538349.1:p.Ala2022Ser
XM_011540052.1:c.3574G>T	XP_011538354.1:p.Ala1192Ser
NM_022124.6:c.7051G>T MANE Select	NP_071407.4:p.Ala2351Ser