Canonical Allele Identifier: CA377158198

Gene: CDH23

Linked Data

• gnomAD v4: 10-71798515-G-A
• MyVariant Identifiers: chr10:g.73558272G>A (hg19) ; chr10:g.71798515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798515G>A , CM000672.2:g.71798515G>A	GRCh38
NC_000010.10:g.73558272G>A , CM000672.1:g.73558272G>A	GRCh37
NC_000010.9:g.73228278G>A	NCBI36
NG_008835.1:g.406569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6991G>A MANE Select	ENSP00000224721.9:p.Val2331Ile
ENST00000642965.1:c.924G>A	ENSP00000495222.1:n.924G>A
ENST00000647092.1:c.588G>A	ENSP00000495176.1:n.588G>A
ENST00000224721.10:c.7006G>A	ENSP00000224721.8:p.Val2336Ile
ENST00000398788.4:c.271G>A	ENSP00000381768.3:p.Val91Ile
ENST00000475158.1:n.527G>A
ENST00000619887.4:c.271G>A	ENSP00000478374.1:p.Val91Ile
ENST00000622827.4:c.6991G>A	ENSP00000483211.1:p.Val2331Ile
NM_001171933.1:c.271G>A	NP_001165404.1:p.Val91Ile
NM_001171934.1:c.271G>A	NP_001165405.1:p.Val91Ile
NM_022124.5:c.6991G>A	NP_071407.4:p.Val2331Ile
XM_006717940.2:c.7186G>A	XP_006718003.1:p.Val2396Ile
XM_006717942.2:c.7120G>A	XP_006718005.1:p.Val2374Ile
XM_011540039.1:c.7183G>A	XP_011538341.1:p.Val2395Ile
XM_011540040.1:c.7180G>A	XP_011538342.1:p.Val2394Ile
XM_011540041.1:c.7126G>A	XP_011538343.1:p.Val2376Ile
XM_011540042.1:c.7096G>A	XP_011538344.1:p.Val2366Ile
XM_011540043.1:c.7186G>A	XP_011538345.1:p.Val2396Ile
XM_011540044.1:c.7051G>A	XP_011538346.1:p.Val2351Ile
XM_011540045.1:c.7186G>A	XP_011538347.1:p.Val2396Ile
XM_011540046.1:c.6646G>A	XP_011538348.1:p.Val2216Ile
XM_011540047.1:c.6004G>A	XP_011538349.1:p.Val2002Ile
XM_011540052.1:c.3514G>A	XP_011538354.1:p.Val1172Ile
NM_022124.6:c.6991G>A MANE Select	NP_071407.4:p.Val2331Ile