Canonical Allele Identifier: CA16609573

Gene: CDH23

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807302T>C , CM000672.2:g.71807302T>C	GRCh38
NC_000010.10:g.73567059T>C , CM000672.1:g.73567059T>C	GRCh37
NC_000010.9:g.73237065T>C	NCBI36
NG_008835.1:g.415356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8204T>C MANE Select	ENSP00000224721.9:p.Leu2735Pro
ENST00000642965.1:c.2137T>C	ENSP00000495222.1:n.2137T>C
ENST00000647092.1:c.1801T>C	ENSP00000495176.1:n.1801T>C
ENST00000224721.10:c.8219T>C	ENSP00000224721.8:p.Leu2740Pro
ENST00000398788.4:c.1484T>C	ENSP00000381768.3:p.Leu495Pro
ENST00000475158.1:n.1740T>C
ENST00000619887.4:c.1484T>C	ENSP00000478374.1:p.Leu495Pro
ENST00000622827.4:c.8204T>C	ENSP00000483211.1:p.Leu2735Pro
NM_001171933.1:c.1484T>C	NP_001165404.1:p.Leu495Pro
NM_001171934.1:c.1484T>C	NP_001165405.1:p.Leu495Pro
NM_022124.5:c.8204T>C	NP_071407.4:p.Leu2735Pro
XM_006717940.2:c.8399T>C	XP_006718003.1:p.Leu2800Pro
XM_006717942.2:c.8333T>C	XP_006718005.1:p.Leu2778Pro
XM_011540039.1:c.8396T>C	XP_011538341.1:p.Leu2799Pro
XM_011540040.1:c.8393T>C	XP_011538342.1:p.Leu2798Pro
XM_011540041.1:c.8339T>C	XP_011538343.1:p.Leu2780Pro
XM_011540042.1:c.8309T>C	XP_011538344.1:p.Leu2770Pro
XM_011540043.1:c.8399T>C	XP_011538345.1:p.Leu2800Pro
XM_011540044.1:c.8264T>C	XP_011538346.1:p.Leu2755Pro
XM_011540045.1:c.8399T>C	XP_011538347.1:p.Leu2800Pro
XM_011540046.1:c.7859T>C	XP_011538348.1:p.Leu2620Pro
XM_011540047.1:c.7217T>C	XP_011538349.1:p.Leu2406Pro
XM_011540052.1:c.4727T>C	XP_011538354.1:p.Leu1576Pro
NM_022124.6:c.8204T>C MANE Select	NP_071407.4:p.Leu2735Pro