Canonical Allele Identifier: CA377159930

Gene: CDH23

Linked Data

• COSMIC: COSM4607486
• MyVariant Identifiers: chr10:g.73560453G>T (hg19) ; chr10:g.71800696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800696G>T , CM000672.2:g.71800696G>T	GRCh38
NC_000010.10:g.73560453G>T , CM000672.1:g.73560453G>T	GRCh37
NC_000010.9:g.73230459G>T	NCBI36
NG_008835.1:g.408750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7423G>T MANE Select	ENSP00000224721.9:p.Ala2475Ser
ENST00000642965.1:c.1356G>T	ENSP00000495222.1:n.1356G>T
ENST00000647092.1:c.1020G>T	ENSP00000495176.1:n.1020G>T
ENST00000224721.10:c.7438G>T	ENSP00000224721.8:p.Ala2480Ser
ENST00000398788.4:c.703G>T	ENSP00000381768.3:p.Ala235Ser
ENST00000475158.1:n.959G>T
ENST00000619887.4:c.703G>T	ENSP00000478374.1:p.Ala235Ser
ENST00000622827.4:c.7423G>T	ENSP00000483211.1:p.Ala2475Ser
NM_001171933.1:c.703G>T	NP_001165404.1:p.Ala235Ser
NM_001171934.1:c.703G>T	NP_001165405.1:p.Ala235Ser
NM_022124.5:c.7423G>T	NP_071407.4:p.Ala2475Ser
XM_006717940.2:c.7618G>T	XP_006718003.1:p.Ala2540Ser
XM_006717942.2:c.7552G>T	XP_006718005.1:p.Ala2518Ser
XM_011540039.1:c.7615G>T	XP_011538341.1:p.Ala2539Ser
XM_011540040.1:c.7612G>T	XP_011538342.1:p.Ala2538Ser
XM_011540041.1:c.7558G>T	XP_011538343.1:p.Ala2520Ser
XM_011540042.1:c.7528G>T	XP_011538344.1:p.Ala2510Ser
XM_011540043.1:c.7618G>T	XP_011538345.1:p.Ala2540Ser
XM_011540044.1:c.7483G>T	XP_011538346.1:p.Ala2495Ser
XM_011540045.1:c.7618G>T	XP_011538347.1:p.Ala2540Ser
XM_011540046.1:c.7078G>T	XP_011538348.1:p.Ala2360Ser
XM_011540047.1:c.6436G>T	XP_011538349.1:p.Ala2146Ser
XM_011540052.1:c.3946G>T	XP_011538354.1:p.Ala1316Ser
NM_022124.6:c.7423G>T MANE Select	NP_071407.4:p.Ala2475Ser