Canonical Allele Identifier: CA377159482

Gene: CDH23

Linked Data

• MyVariant Identifiers: chr10:g.73559331T>C (hg19) ; chr10:g.71799574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799574T>C , CM000672.2:g.71799574T>C	GRCh38
NC_000010.10:g.73559331T>C , CM000672.1:g.73559331T>C	GRCh37
NC_000010.9:g.73229337T>C	NCBI36
NG_008835.1:g.407628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7307T>C MANE Select	ENSP00000224721.9:p.Leu2436Pro
ENST00000642965.1:c.1240T>C	ENSP00000495222.1:n.1240T>C
ENST00000647092.1:c.904T>C	ENSP00000495176.1:n.904T>C
ENST00000224721.10:c.7322T>C	ENSP00000224721.8:p.Leu2441Pro
ENST00000398788.4:c.587T>C	ENSP00000381768.3:p.Leu196Pro
ENST00000475158.1:n.843T>C
ENST00000619887.4:c.587T>C	ENSP00000478374.1:p.Leu196Pro
ENST00000622827.4:c.7307T>C	ENSP00000483211.1:p.Leu2436Pro
NM_001171933.1:c.587T>C	NP_001165404.1:p.Leu196Pro
NM_001171934.1:c.587T>C	NP_001165405.1:p.Leu196Pro
NM_022124.5:c.7307T>C	NP_071407.4:p.Leu2436Pro
XM_006717940.2:c.7502T>C	XP_006718003.1:p.Leu2501Pro
XM_006717942.2:c.7436T>C	XP_006718005.1:p.Leu2479Pro
XM_011540039.1:c.7499T>C	XP_011538341.1:p.Leu2500Pro
XM_011540040.1:c.7496T>C	XP_011538342.1:p.Leu2499Pro
XM_011540041.1:c.7442T>C	XP_011538343.1:p.Leu2481Pro
XM_011540042.1:c.7412T>C	XP_011538344.1:p.Leu2471Pro
XM_011540043.1:c.7502T>C	XP_011538345.1:p.Leu2501Pro
XM_011540044.1:c.7367T>C	XP_011538346.1:p.Leu2456Pro
XM_011540045.1:c.7502T>C	XP_011538347.1:p.Leu2501Pro
XM_011540046.1:c.6962T>C	XP_011538348.1:p.Leu2321Pro
XM_011540047.1:c.6320T>C	XP_011538349.1:p.Leu2107Pro
XM_011540052.1:c.3830T>C	XP_011538354.1:p.Leu1277Pro
NM_022124.6:c.7307T>C MANE Select	NP_071407.4:p.Leu2436Pro