Canonical Allele Identifier: CA5546543

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806174T>C , CM000672.2:g.71806174T>C	GRCh38
NC_000010.10:g.73565931T>C , CM000672.1:g.73565931T>C	GRCh37
NC_000010.9:g.73235937T>C	NCBI36
NG_008835.1:g.414228T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8071T>C MANE Select	NP_071407.4:p.Leu2691=
ENST00000224721.12:c.8071T>C MANE Select	ENSP00000224721.9:p.Leu2691=
NM_001171933.1:c.1351T>C	NP_001165404.1:p.Leu451=
NM_001171934.1:c.1351T>C	NP_001165405.1:p.Leu451=
NM_022124.5:c.8071T>C	NP_071407.4:p.Leu2691=
ENST00000224721.10:c.8086T>C	ENSP00000224721.8:p.Leu2696=
ENST00000398788.4:c.1351T>C	ENSP00000381768.3:p.Leu451=
ENST00000475158.1:n.1607T>C
ENST00000619887.4:c.1351T>C	ENSP00000478374.1:p.Leu451=
ENST00000622827.4:c.8071T>C	ENSP00000483211.1:p.Leu2691=
ENST00000642965.1:c.2004T>C	ENSP00000495222.1:n.2004T>C
ENST00000647092.1:c.1668T>C	ENSP00000495176.1:n.1668T>C
XM_006717940.2:c.8266T>C	XP_006718003.1:p.Leu2756=
XM_006717942.2:c.8200T>C	XP_006718005.1:p.Leu2734=
XM_011540039.1:c.8263T>C	XP_011538341.1:p.Leu2755=
XM_011540040.1:c.8260T>C	XP_011538342.1:p.Leu2754=
XM_011540041.1:c.8206T>C	XP_011538343.1:p.Leu2736=
XM_011540042.1:c.8176T>C	XP_011538344.1:p.Leu2726=
XM_011540043.1:c.8266T>C	XP_011538345.1:p.Leu2756=
XM_011540044.1:c.8131T>C	XP_011538346.1:p.Leu2711=
XM_011540045.1:c.8266T>C	XP_011538347.1:p.Leu2756=
XM_011540046.1:c.7726T>C	XP_011538348.1:p.Leu2576=
XM_011540047.1:c.7084T>C	XP_011538349.1:p.Leu2362=
XM_011540052.1:c.4594T>C	XP_011538354.1:p.Leu1532=