Canonical Allele Identifier: CA5546639

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807590C>T , CM000672.2:g.71807590C>T	GRCh38
NC_000010.10:g.73567347C>T , CM000672.1:g.73567347C>T	GRCh37
NC_000010.9:g.73237353C>T	NCBI36
NG_008835.1:g.415644C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.8383C>T MANE Select	NP_071407.4:p.Arg2795Ter
ENST00000224721.12:c.8383C>T MANE Select	ENSP00000224721.9:p.Arg2795Ter
NM_001171933.1:c.1663C>T	NP_001165404.1:p.Arg555Ter
NM_001171934.1:c.1663C>T	NP_001165405.1:p.Arg555Ter
NM_022124.5:c.8383C>T	NP_071407.4:p.Arg2795Ter
ENST00000224721.10:c.8398C>T	ENSP00000224721.8:p.Arg2800Ter
ENST00000398788.4:c.1663C>T	ENSP00000381768.3:p.Arg555Ter
ENST00000475158.1:n.1919C>T
ENST00000619887.4:c.1663C>T	ENSP00000478374.1:p.Arg555Ter
ENST00000622827.4:c.8383C>T	ENSP00000483211.1:p.Arg2795Ter
ENST00000642965.1:c.2316C>T	ENSP00000495222.1:n.2316C>T
ENST00000647092.1:c.1980C>T	ENSP00000495176.1:n.1980C>T
XM_006717940.2:c.8578C>T	XP_006718003.1:p.Arg2860Ter
XM_006717942.2:c.8512C>T	XP_006718005.1:p.Arg2838Ter
XM_011540039.1:c.8575C>T	XP_011538341.1:p.Arg2859Ter
XM_011540040.1:c.8572C>T	XP_011538342.1:p.Arg2858Ter
XM_011540041.1:c.8518C>T	XP_011538343.1:p.Arg2840Ter
XM_011540042.1:c.8488C>T	XP_011538344.1:p.Arg2830Ter
XM_011540043.1:c.8578C>T	XP_011538345.1:p.Arg2860Ter
XM_011540044.1:c.8443C>T	XP_011538346.1:p.Arg2815Ter
XM_011540045.1:c.8578C>T	XP_011538347.1:p.Arg2860Ter
XM_011540046.1:c.8038C>T	XP_011538348.1:p.Arg2680Ter
XM_011540047.1:c.7396C>T	XP_011538349.1:p.Arg2466Ter
XM_011540052.1:c.4906C>T	XP_011538354.1:p.Arg1636Ter