Canonical Allele Identifier: CA377159839

Gene: CDH23

Linked Data

• ClinVar Variation Id: 452850
• ClinVar RCV Id: RCV000523368
• dbSNP Id: rs1554875886
• MyVariant Identifiers: chr10:g.73560409T>G (hg19) ; chr10:g.71800652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800652T>G , CM000672.2:g.71800652T>G	GRCh38
NC_000010.10:g.73560409T>G , CM000672.1:g.73560409T>G	GRCh37
NC_000010.9:g.73230415T>G	NCBI36
NG_008835.1:g.408706T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7379T>G MANE Select	ENSP00000224721.9:p.Leu2460Arg
ENST00000642965.1:c.1312T>G	ENSP00000495222.1:n.1312T>G
ENST00000647092.1:c.976T>G	ENSP00000495176.1:n.976T>G
ENST00000224721.10:c.7394T>G	ENSP00000224721.8:p.Leu2465Arg
ENST00000398788.4:c.659T>G	ENSP00000381768.3:p.Leu220Arg
ENST00000475158.1:n.915T>G
ENST00000619887.4:c.659T>G	ENSP00000478374.1:p.Leu220Arg
ENST00000622827.4:c.7379T>G	ENSP00000483211.1:p.Leu2460Arg
NM_001171933.1:c.659T>G	NP_001165404.1:p.Leu220Arg
NM_001171934.1:c.659T>G	NP_001165405.1:p.Leu220Arg
NM_022124.5:c.7379T>G	NP_071407.4:p.Leu2460Arg
XM_006717940.2:c.7574T>G	XP_006718003.1:p.Leu2525Arg
XM_006717942.2:c.7508T>G	XP_006718005.1:p.Leu2503Arg
XM_011540039.1:c.7571T>G	XP_011538341.1:p.Leu2524Arg
XM_011540040.1:c.7568T>G	XP_011538342.1:p.Leu2523Arg
XM_011540041.1:c.7514T>G	XP_011538343.1:p.Leu2505Arg
XM_011540042.1:c.7484T>G	XP_011538344.1:p.Leu2495Arg
XM_011540043.1:c.7574T>G	XP_011538345.1:p.Leu2525Arg
XM_011540044.1:c.7439T>G	XP_011538346.1:p.Leu2480Arg
XM_011540045.1:c.7574T>G	XP_011538347.1:p.Leu2525Arg
XM_011540046.1:c.7034T>G	XP_011538348.1:p.Leu2345Arg
XM_011540047.1:c.6392T>G	XP_011538349.1:p.Leu2131Arg
XM_011540052.1:c.3902T>G	XP_011538354.1:p.Leu1301Arg
NM_022124.6:c.7379T>G MANE Select	NP_071407.4:p.Leu2460Arg