Canonical Allele Identifier: CA377159273

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73559286T>G (hg19) ; chr10:g.71799529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799529T>G , CM000672.2:g.71799529T>G	GRCh38
NC_000010.10:g.73559286T>G , CM000672.1:g.73559286T>G	GRCh37
NC_000010.9:g.73229292T>G	NCBI36
NG_008835.1:g.407583T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7262T>G MANE Select	ENSP00000224721.9:p.Ile2421Ser
ENST00000642965.1:c.1195T>G	ENSP00000495222.1:n.1195T>G
ENST00000647092.1:c.859T>G	ENSP00000495176.1:n.859T>G
ENST00000224721.10:c.7277T>G	ENSP00000224721.8:p.Ile2426Ser
ENST00000398788.4:c.542T>G	ENSP00000381768.3:p.Ile181Ser
ENST00000475158.1:n.798T>G
ENST00000619887.4:c.542T>G	ENSP00000478374.1:p.Ile181Ser
ENST00000622827.4:c.7262T>G	ENSP00000483211.1:p.Ile2421Ser
NM_001171933.1:c.542T>G	NP_001165404.1:p.Ile181Ser
NM_001171934.1:c.542T>G	NP_001165405.1:p.Ile181Ser
NM_022124.5:c.7262T>G	NP_071407.4:p.Ile2421Ser
XM_006717940.2:c.7457T>G	XP_006718003.1:p.Ile2486Ser
XM_006717942.2:c.7391T>G	XP_006718005.1:p.Ile2464Ser
XM_011540039.1:c.7454T>G	XP_011538341.1:p.Ile2485Ser
XM_011540040.1:c.7451T>G	XP_011538342.1:p.Ile2484Ser
XM_011540041.1:c.7397T>G	XP_011538343.1:p.Ile2466Ser
XM_011540042.1:c.7367T>G	XP_011538344.1:p.Ile2456Ser
XM_011540043.1:c.7457T>G	XP_011538345.1:p.Ile2486Ser
XM_011540044.1:c.7322T>G	XP_011538346.1:p.Ile2441Ser
XM_011540045.1:c.7457T>G	XP_011538347.1:p.Ile2486Ser
XM_011540046.1:c.6917T>G	XP_011538348.1:p.Ile2306Ser
XM_011540047.1:c.6275T>G	XP_011538349.1:p.Ile2092Ser
XM_011540052.1:c.3785T>G	XP_011538354.1:p.Ile1262Ser
NM_022124.6:c.7262T>G MANE Select	NP_071407.4:p.Ile2421Ser