Canonical Allele Identifier: CA377158133

Gene: CDH23

Linked Data

• dbSNP Id: rs1841466427
• MyVariant Identifiers: chr10:g.73558260C>T (hg19) ; chr10:g.71798503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798503C>T , CM000672.2:g.71798503C>T	GRCh38
NC_000010.10:g.73558260C>T , CM000672.1:g.73558260C>T	GRCh37
NC_000010.9:g.73228266C>T	NCBI36
NG_008835.1:g.406557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6979C>T MANE Select	ENSP00000224721.9:p.Leu2327Phe
ENST00000642965.1:c.912C>T	ENSP00000495222.1:n.912C>T
ENST00000647092.1:c.576C>T	ENSP00000495176.1:n.576C>T
ENST00000224721.10:c.6994C>T	ENSP00000224721.8:p.Leu2332Phe
ENST00000398788.4:c.259C>T	ENSP00000381768.3:p.Leu87Phe
ENST00000475158.1:n.515C>T
ENST00000619887.4:c.259C>T	ENSP00000478374.1:p.Leu87Phe
ENST00000622827.4:c.6979C>T	ENSP00000483211.1:p.Leu2327Phe
NM_001171933.1:c.259C>T	NP_001165404.1:p.Leu87Phe
NM_001171934.1:c.259C>T	NP_001165405.1:p.Leu87Phe
NM_022124.5:c.6979C>T	NP_071407.4:p.Leu2327Phe
XM_006717940.2:c.7174C>T	XP_006718003.1:p.Leu2392Phe
XM_006717942.2:c.7108C>T	XP_006718005.1:p.Leu2370Phe
XM_011540039.1:c.7171C>T	XP_011538341.1:p.Leu2391Phe
XM_011540040.1:c.7168C>T	XP_011538342.1:p.Leu2390Phe
XM_011540041.1:c.7114C>T	XP_011538343.1:p.Leu2372Phe
XM_011540042.1:c.7084C>T	XP_011538344.1:p.Leu2362Phe
XM_011540043.1:c.7174C>T	XP_011538345.1:p.Leu2392Phe
XM_011540044.1:c.7039C>T	XP_011538346.1:p.Leu2347Phe
XM_011540045.1:c.7174C>T	XP_011538347.1:p.Leu2392Phe
XM_011540046.1:c.6634C>T	XP_011538348.1:p.Leu2212Phe
XM_011540047.1:c.5992C>T	XP_011538349.1:p.Leu1998Phe
XM_011540052.1:c.3502C>T	XP_011538354.1:p.Leu1168Phe
NM_022124.6:c.6979C>T MANE Select	NP_071407.4:p.Leu2327Phe