Canonical Allele Identifier: CA377162325

Gene: CDH23

Linked Data

• gnomAD v4: 10-71806190-T-G
• MyVariant Identifiers: chr10:g.73565947T>G (hg19) ; chr10:g.71806190T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806190T>G , CM000672.2:g.71806190T>G	GRCh38
NC_000010.10:g.73565947T>G , CM000672.1:g.73565947T>G	GRCh37
NC_000010.9:g.73235953T>G	NCBI36
NG_008835.1:g.414244T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8087T>G MANE Select	ENSP00000224721.9:p.Leu2696Arg
ENST00000642965.1:c.2020T>G	ENSP00000495222.1:n.2020T>G
ENST00000647092.1:c.1684T>G	ENSP00000495176.1:n.1684T>G
ENST00000224721.10:c.8102T>G	ENSP00000224721.8:p.Leu2701Arg
ENST00000398788.4:c.1367T>G	ENSP00000381768.3:p.Leu456Arg
ENST00000475158.1:n.1623T>G
ENST00000619887.4:c.1367T>G	ENSP00000478374.1:p.Leu456Arg
ENST00000622827.4:c.8087T>G	ENSP00000483211.1:p.Leu2696Arg
NM_001171933.1:c.1367T>G	NP_001165404.1:p.Leu456Arg
NM_001171934.1:c.1367T>G	NP_001165405.1:p.Leu456Arg
NM_022124.5:c.8087T>G	NP_071407.4:p.Leu2696Arg
XM_006717940.2:c.8282T>G	XP_006718003.1:p.Leu2761Arg
XM_006717942.2:c.8216T>G	XP_006718005.1:p.Leu2739Arg
XM_011540039.1:c.8279T>G	XP_011538341.1:p.Leu2760Arg
XM_011540040.1:c.8276T>G	XP_011538342.1:p.Leu2759Arg
XM_011540041.1:c.8222T>G	XP_011538343.1:p.Leu2741Arg
XM_011540042.1:c.8192T>G	XP_011538344.1:p.Leu2731Arg
XM_011540043.1:c.8282T>G	XP_011538345.1:p.Leu2761Arg
XM_011540044.1:c.8147T>G	XP_011538346.1:p.Leu2716Arg
XM_011540045.1:c.8282T>G	XP_011538347.1:p.Leu2761Arg
XM_011540046.1:c.7742T>G	XP_011538348.1:p.Leu2581Arg
XM_011540047.1:c.7100T>G	XP_011538349.1:p.Leu2367Arg
XM_011540052.1:c.4610T>G	XP_011538354.1:p.Leu1537Arg
NM_022124.6:c.8087T>G MANE Select	NP_071407.4:p.Leu2696Arg