Canonical Allele Identifier: CA377158450

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73558311G>A (hg19) ; chr10:g.71798554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798554G>A , CM000672.2:g.71798554G>A	GRCh38
NC_000010.10:g.73558311G>A , CM000672.1:g.73558311G>A	GRCh37
NC_000010.9:g.73228317G>A	NCBI36
NG_008835.1:g.406608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7030G>A MANE Select	ENSP00000224721.9:p.Val2344Ile
ENST00000642965.1:c.963G>A	ENSP00000495222.1:n.963G>A
ENST00000647092.1:c.627G>A	ENSP00000495176.1:n.627G>A
ENST00000224721.10:c.7045G>A	ENSP00000224721.8:p.Val2349Ile
ENST00000398788.4:c.310G>A	ENSP00000381768.3:p.Val104Ile
ENST00000475158.1:n.566G>A
ENST00000619887.4:c.310G>A	ENSP00000478374.1:p.Val104Ile
ENST00000622827.4:c.7030G>A	ENSP00000483211.1:p.Val2344Ile
NM_001171933.1:c.310G>A	NP_001165404.1:p.Val104Ile
NM_001171934.1:c.310G>A	NP_001165405.1:p.Val104Ile
NM_022124.5:c.7030G>A	NP_071407.4:p.Val2344Ile
XM_006717940.2:c.7225G>A	XP_006718003.1:p.Val2409Ile
XM_006717942.2:c.7159G>A	XP_006718005.1:p.Val2387Ile
XM_011540039.1:c.7222G>A	XP_011538341.1:p.Val2408Ile
XM_011540040.1:c.7219G>A	XP_011538342.1:p.Val2407Ile
XM_011540041.1:c.7165G>A	XP_011538343.1:p.Val2389Ile
XM_011540042.1:c.7135G>A	XP_011538344.1:p.Val2379Ile
XM_011540043.1:c.7225G>A	XP_011538345.1:p.Val2409Ile
XM_011540044.1:c.7090G>A	XP_011538346.1:p.Val2364Ile
XM_011540045.1:c.7225G>A	XP_011538347.1:p.Val2409Ile
XM_011540046.1:c.6685G>A	XP_011538348.1:p.Val2229Ile
XM_011540047.1:c.6043G>A	XP_011538349.1:p.Val2015Ile
XM_011540052.1:c.3553G>A	XP_011538354.1:p.Val1185Ile
NM_022124.6:c.7030G>A MANE Select	NP_071407.4:p.Val2344Ile