Canonical Allele Identifier: CA377158096

Gene: CDH23

Linked Data

• dbSNP Id: rs2132965843
• MyVariant Identifiers: chr10:g.73558252A>T (hg19) ; chr10:g.71798495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798495A>T , CM000672.2:g.71798495A>T	GRCh38
NC_000010.10:g.73558252A>T , CM000672.1:g.73558252A>T	GRCh37
NC_000010.9:g.73228258A>T	NCBI36
NG_008835.1:g.406549A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6971A>T MANE Select	ENSP00000224721.9:p.Asp2324Val
ENST00000642965.1:c.904A>T	ENSP00000495222.1:n.904A>T
ENST00000647092.1:c.568A>T	ENSP00000495176.1:n.568A>T
ENST00000224721.10:c.6986A>T	ENSP00000224721.8:p.Asp2329Val
ENST00000398788.4:c.251A>T	ENSP00000381768.3:p.Asp84Val
ENST00000475158.1:n.507A>T
ENST00000619887.4:c.251A>T	ENSP00000478374.1:p.Asp84Val
ENST00000622827.4:c.6971A>T	ENSP00000483211.1:p.Asp2324Val
NM_001171933.1:c.251A>T	NP_001165404.1:p.Asp84Val
NM_001171934.1:c.251A>T	NP_001165405.1:p.Asp84Val
NM_022124.5:c.6971A>T	NP_071407.4:p.Asp2324Val
XM_006717940.2:c.7166A>T	XP_006718003.1:p.Asp2389Val
XM_006717942.2:c.7100A>T	XP_006718005.1:p.Asp2367Val
XM_011540039.1:c.7163A>T	XP_011538341.1:p.Asp2388Val
XM_011540040.1:c.7160A>T	XP_011538342.1:p.Asp2387Val
XM_011540041.1:c.7106A>T	XP_011538343.1:p.Asp2369Val
XM_011540042.1:c.7076A>T	XP_011538344.1:p.Asp2359Val
XM_011540043.1:c.7166A>T	XP_011538345.1:p.Asp2389Val
XM_011540044.1:c.7031A>T	XP_011538346.1:p.Asp2344Val
XM_011540045.1:c.7166A>T	XP_011538347.1:p.Asp2389Val
XM_011540046.1:c.6626A>T	XP_011538348.1:p.Asp2209Val
XM_011540047.1:c.5984A>T	XP_011538349.1:p.Asp1995Val
XM_011540052.1:c.3494A>T	XP_011538354.1:p.Asp1165Val
NM_022124.6:c.6971A>T MANE Select	NP_071407.4:p.Asp2324Val