Canonical Allele Identifier: CA377159296

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73559294G>T (hg19) ; chr10:g.71799537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799537G>T , CM000672.2:g.71799537G>T	GRCh38
NC_000010.10:g.73559294G>T , CM000672.1:g.73559294G>T	GRCh37
NC_000010.9:g.73229300G>T	NCBI36
NG_008835.1:g.407591G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7270G>T MANE Select	ENSP00000224721.9:p.Val2424Phe
ENST00000642965.1:c.1203G>T	ENSP00000495222.1:n.1203G>T
ENST00000647092.1:c.867G>T	ENSP00000495176.1:n.867G>T
ENST00000224721.10:c.7285G>T	ENSP00000224721.8:p.Val2429Phe
ENST00000398788.4:c.550G>T	ENSP00000381768.3:p.Val184Phe
ENST00000475158.1:n.806G>T
ENST00000619887.4:c.550G>T	ENSP00000478374.1:p.Val184Phe
ENST00000622827.4:c.7270G>T	ENSP00000483211.1:p.Val2424Phe
NM_001171933.1:c.550G>T	NP_001165404.1:p.Val184Phe
NM_001171934.1:c.550G>T	NP_001165405.1:p.Val184Phe
NM_022124.5:c.7270G>T	NP_071407.4:p.Val2424Phe
XM_006717940.2:c.7465G>T	XP_006718003.1:p.Val2489Phe
XM_006717942.2:c.7399G>T	XP_006718005.1:p.Val2467Phe
XM_011540039.1:c.7462G>T	XP_011538341.1:p.Val2488Phe
XM_011540040.1:c.7459G>T	XP_011538342.1:p.Val2487Phe
XM_011540041.1:c.7405G>T	XP_011538343.1:p.Val2469Phe
XM_011540042.1:c.7375G>T	XP_011538344.1:p.Val2459Phe
XM_011540043.1:c.7465G>T	XP_011538345.1:p.Val2489Phe
XM_011540044.1:c.7330G>T	XP_011538346.1:p.Val2444Phe
XM_011540045.1:c.7465G>T	XP_011538347.1:p.Val2489Phe
XM_011540046.1:c.6925G>T	XP_011538348.1:p.Val2309Phe
XM_011540047.1:c.6283G>T	XP_011538349.1:p.Val2095Phe
XM_011540052.1:c.3793G>T	XP_011538354.1:p.Val1265Phe
NM_022124.6:c.7270G>T MANE Select	NP_071407.4:p.Val2424Phe