Canonical Allele Identifier: CA377162342

Gene: CDH23

Linked Data

• gnomAD v4: 10-71806199-C-G
• MyVariant Identifiers: chr10:g.73565956C>G (hg19) ; chr10:g.71806199C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806199C>G , CM000672.2:g.71806199C>G	GRCh38
NC_000010.10:g.73565956C>G , CM000672.1:g.73565956C>G	GRCh37
NC_000010.9:g.73235962C>G	NCBI36
NG_008835.1:g.414253C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8096C>G MANE Select	ENSP00000224721.9:p.Pro2699Arg
ENST00000642965.1:c.2029C>G	ENSP00000495222.1:n.2029C>G
ENST00000647092.1:c.1693C>G	ENSP00000495176.1:n.1693C>G
ENST00000224721.10:c.8111C>G	ENSP00000224721.8:p.Pro2704Arg
ENST00000398788.4:c.1376C>G	ENSP00000381768.3:p.Pro459Arg
ENST00000475158.1:n.1632C>G
ENST00000619887.4:c.1376C>G	ENSP00000478374.1:p.Pro459Arg
ENST00000622827.4:c.8096C>G	ENSP00000483211.1:p.Pro2699Arg
NM_001171933.1:c.1376C>G	NP_001165404.1:p.Pro459Arg
NM_001171934.1:c.1376C>G	NP_001165405.1:p.Pro459Arg
NM_022124.5:c.8096C>G	NP_071407.4:p.Pro2699Arg
XM_006717940.2:c.8291C>G	XP_006718003.1:p.Pro2764Arg
XM_006717942.2:c.8225C>G	XP_006718005.1:p.Pro2742Arg
XM_011540039.1:c.8288C>G	XP_011538341.1:p.Pro2763Arg
XM_011540040.1:c.8285C>G	XP_011538342.1:p.Pro2762Arg
XM_011540041.1:c.8231C>G	XP_011538343.1:p.Pro2744Arg
XM_011540042.1:c.8201C>G	XP_011538344.1:p.Pro2734Arg
XM_011540043.1:c.8291C>G	XP_011538345.1:p.Pro2764Arg
XM_011540044.1:c.8156C>G	XP_011538346.1:p.Pro2719Arg
XM_011540045.1:c.8291C>G	XP_011538347.1:p.Pro2764Arg
XM_011540046.1:c.7751C>G	XP_011538348.1:p.Pro2584Arg
XM_011540047.1:c.7109C>G	XP_011538349.1:p.Pro2370Arg
XM_011540052.1:c.4619C>G	XP_011538354.1:p.Pro1540Arg
NM_022124.6:c.8096C>G MANE Select	NP_071407.4:p.Pro2699Arg