Canonical Allele Identifier: CA377159281

Gene: CDH23

Linked Data

• gnomAD v4: 10-71799531-C-G
• COSMIC: COSM4015623
• MyVariant Identifiers: chr10:g.73559288C>G (hg19) ; chr10:g.71799531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799531C>G , CM000672.2:g.71799531C>G	GRCh38
NC_000010.10:g.73559288C>G , CM000672.1:g.73559288C>G	GRCh37
NC_000010.9:g.73229294C>G	NCBI36
NG_008835.1:g.407585C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7264C>G MANE Select	ENSP00000224721.9:p.Leu2422Val
ENST00000642965.1:c.1197C>G	ENSP00000495222.1:n.1197C>G
ENST00000647092.1:c.861C>G	ENSP00000495176.1:n.861C>G
ENST00000224721.10:c.7279C>G	ENSP00000224721.8:p.Leu2427Val
ENST00000398788.4:c.544C>G	ENSP00000381768.3:p.Leu182Val
ENST00000475158.1:n.800C>G
ENST00000619887.4:c.544C>G	ENSP00000478374.1:p.Leu182Val
ENST00000622827.4:c.7264C>G	ENSP00000483211.1:p.Leu2422Val
NM_001171933.1:c.544C>G	NP_001165404.1:p.Leu182Val
NM_001171934.1:c.544C>G	NP_001165405.1:p.Leu182Val
NM_022124.5:c.7264C>G	NP_071407.4:p.Leu2422Val
XM_006717940.2:c.7459C>G	XP_006718003.1:p.Leu2487Val
XM_006717942.2:c.7393C>G	XP_006718005.1:p.Leu2465Val
XM_011540039.1:c.7456C>G	XP_011538341.1:p.Leu2486Val
XM_011540040.1:c.7453C>G	XP_011538342.1:p.Leu2485Val
XM_011540041.1:c.7399C>G	XP_011538343.1:p.Leu2467Val
XM_011540042.1:c.7369C>G	XP_011538344.1:p.Leu2457Val
XM_011540043.1:c.7459C>G	XP_011538345.1:p.Leu2487Val
XM_011540044.1:c.7324C>G	XP_011538346.1:p.Leu2442Val
XM_011540045.1:c.7459C>G	XP_011538347.1:p.Leu2487Val
XM_011540046.1:c.6919C>G	XP_011538348.1:p.Leu2307Val
XM_011540047.1:c.6277C>G	XP_011538349.1:p.Leu2093Val
XM_011540052.1:c.3787C>G	XP_011538354.1:p.Leu1263Val
NM_022124.6:c.7264C>G MANE Select	NP_071407.4:p.Leu2422Val