Canonical Allele Identifier: CA377159295

Gene: CDH23

Linked Data

• gnomAD v4: 10-71799537-G-A
• MyVariant Identifiers: chr10:g.73559294G>A (hg19) ; chr10:g.71799537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799537G>A , CM000672.2:g.71799537G>A	GRCh38
NC_000010.10:g.73559294G>A , CM000672.1:g.73559294G>A	GRCh37
NC_000010.9:g.73229300G>A	NCBI36
NG_008835.1:g.407591G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7270G>A MANE Select	ENSP00000224721.9:p.Val2424Ile
ENST00000642965.1:c.1203G>A	ENSP00000495222.1:n.1203G>A
ENST00000647092.1:c.867G>A	ENSP00000495176.1:n.867G>A
ENST00000224721.10:c.7285G>A	ENSP00000224721.8:p.Val2429Ile
ENST00000398788.4:c.550G>A	ENSP00000381768.3:p.Val184Ile
ENST00000475158.1:n.806G>A
ENST00000619887.4:c.550G>A	ENSP00000478374.1:p.Val184Ile
ENST00000622827.4:c.7270G>A	ENSP00000483211.1:p.Val2424Ile
NM_001171933.1:c.550G>A	NP_001165404.1:p.Val184Ile
NM_001171934.1:c.550G>A	NP_001165405.1:p.Val184Ile
NM_022124.5:c.7270G>A	NP_071407.4:p.Val2424Ile
XM_006717940.2:c.7465G>A	XP_006718003.1:p.Val2489Ile
XM_006717942.2:c.7399G>A	XP_006718005.1:p.Val2467Ile
XM_011540039.1:c.7462G>A	XP_011538341.1:p.Val2488Ile
XM_011540040.1:c.7459G>A	XP_011538342.1:p.Val2487Ile
XM_011540041.1:c.7405G>A	XP_011538343.1:p.Val2469Ile
XM_011540042.1:c.7375G>A	XP_011538344.1:p.Val2459Ile
XM_011540043.1:c.7465G>A	XP_011538345.1:p.Val2489Ile
XM_011540044.1:c.7330G>A	XP_011538346.1:p.Val2444Ile
XM_011540045.1:c.7465G>A	XP_011538347.1:p.Val2489Ile
XM_011540046.1:c.6925G>A	XP_011538348.1:p.Val2309Ile
XM_011540047.1:c.6283G>A	XP_011538349.1:p.Val2095Ile
XM_011540052.1:c.3793G>A	XP_011538354.1:p.Val1265Ile
NM_022124.6:c.7270G>A MANE Select	NP_071407.4:p.Val2424Ile