Canonical Allele Identifier: CA377131477

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73567368A>T (hg19) ; chr10:g.71807611A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807611A>T , CM000672.2:g.71807611A>T	GRCh38
NC_000010.10:g.73567368A>T , CM000672.1:g.73567368A>T	GRCh37
NC_000010.9:g.73237374A>T	NCBI36
NG_008835.1:g.415665A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8404A>T MANE Select	ENSP00000224721.9:p.Ile2802Phe
ENST00000642965.1:c.2337A>T	ENSP00000495222.1:n.2337A>T
ENST00000647092.1:c.2001A>T	ENSP00000495176.1:n.2001A>T
ENST00000224721.10:c.8419A>T	ENSP00000224721.8:p.Ile2807Phe
ENST00000398788.4:c.1684A>T	ENSP00000381768.3:p.Ile562Phe
ENST00000475158.1:n.1940A>T
ENST00000619887.4:c.1684A>T	ENSP00000478374.1:p.Ile562Phe
ENST00000622827.4:c.8404A>T	ENSP00000483211.1:p.Ile2802Phe
NM_001171933.1:c.1684A>T	NP_001165404.1:p.Ile562Phe
NM_001171934.1:c.1684A>T	NP_001165405.1:p.Ile562Phe
NM_022124.5:c.8404A>T	NP_071407.4:p.Ile2802Phe
XM_006717940.2:c.8599A>T	XP_006718003.1:p.Ile2867Phe
XM_006717942.2:c.8533A>T	XP_006718005.1:p.Ile2845Phe
XM_011540039.1:c.8596A>T	XP_011538341.1:p.Ile2866Phe
XM_011540040.1:c.8593A>T	XP_011538342.1:p.Ile2865Phe
XM_011540041.1:c.8539A>T	XP_011538343.1:p.Ile2847Phe
XM_011540042.1:c.8509A>T	XP_011538344.1:p.Ile2837Phe
XM_011540043.1:c.8599A>T	XP_011538345.1:p.Ile2867Phe
XM_011540044.1:c.8464A>T	XP_011538346.1:p.Ile2822Phe
XM_011540045.1:c.8599A>T	XP_011538347.1:p.Ile2867Phe
XM_011540046.1:c.8059A>T	XP_011538348.1:p.Ile2687Phe
XM_011540047.1:c.7417A>T	XP_011538349.1:p.Ile2473Phe
XM_011540052.1:c.4927A>T	XP_011538354.1:p.Ile1643Phe
NM_022124.6:c.8404A>T MANE Select	NP_071407.4:p.Ile2802Phe