Canonical Allele Identifier: CA377158490

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73558321A>C (hg19) ; chr10:g.71798564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798564A>C , CM000672.2:g.71798564A>C	GRCh38
NC_000010.10:g.73558321A>C , CM000672.1:g.73558321A>C	GRCh37
NC_000010.9:g.73228327A>C	NCBI36
NG_008835.1:g.406618A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7040A>C MANE Select	ENSP00000224721.9:p.Glu2347Ala
ENST00000642965.1:c.973A>C	ENSP00000495222.1:n.973A>C
ENST00000647092.1:c.637A>C	ENSP00000495176.1:n.637A>C
ENST00000224721.10:c.7055A>C	ENSP00000224721.8:p.Glu2352Ala
ENST00000398788.4:c.320A>C	ENSP00000381768.3:p.Glu107Ala
ENST00000475158.1:n.576A>C
ENST00000619887.4:c.320A>C	ENSP00000478374.1:p.Glu107Ala
ENST00000622827.4:c.7040A>C	ENSP00000483211.1:p.Glu2347Ala
NM_001171933.1:c.320A>C	NP_001165404.1:p.Glu107Ala
NM_001171934.1:c.320A>C	NP_001165405.1:p.Glu107Ala
NM_022124.5:c.7040A>C	NP_071407.4:p.Glu2347Ala
XM_006717940.2:c.7235A>C	XP_006718003.1:p.Glu2412Ala
XM_006717942.2:c.7169A>C	XP_006718005.1:p.Glu2390Ala
XM_011540039.1:c.7232A>C	XP_011538341.1:p.Glu2411Ala
XM_011540040.1:c.7229A>C	XP_011538342.1:p.Glu2410Ala
XM_011540041.1:c.7175A>C	XP_011538343.1:p.Glu2392Ala
XM_011540042.1:c.7145A>C	XP_011538344.1:p.Glu2382Ala
XM_011540043.1:c.7235A>C	XP_011538345.1:p.Glu2412Ala
XM_011540044.1:c.7100A>C	XP_011538346.1:p.Glu2367Ala
XM_011540045.1:c.7235A>C	XP_011538347.1:p.Glu2412Ala
XM_011540046.1:c.6695A>C	XP_011538348.1:p.Glu2232Ala
XM_011540047.1:c.6053A>C	XP_011538349.1:p.Glu2018Ala
XM_011540052.1:c.3563A>C	XP_011538354.1:p.Glu1188Ala
NM_022124.6:c.7040A>C MANE Select	NP_071407.4:p.Glu2347Ala