Canonical Allele Identifier: CA182092

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812886T>C , CM000672.2:g.71812886T>C	GRCh38
NC_000010.10:g.73572643T>C , CM000672.1:g.73572643T>C	GRCh37
NC_000010.9:g.73242649T>C	NCBI36
NG_008835.1:g.420940T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9629T>C MANE Select	NP_071407.4:p.Ile3210Thr
ENST00000224721.12:c.9629T>C MANE Select	ENSP00000224721.9:p.Ile3210Thr
NM_001171933.1:c.2909T>C	NP_001165404.1:p.Ile970Thr
NM_001171934.1:c.2909T>C	NP_001165405.1:p.Ile970Thr
NM_001171935.1:c.320T>C	NP_001165406.1:p.Ile107Thr
NM_001171936.1:c.320T>C	NP_001165407.1:p.Ile107Thr
NM_022124.5:c.9629T>C	NP_071407.4:p.Ile3210Thr
ENST00000224721.10:c.9644T>C	ENSP00000224721.8:p.Ile3215Thr
ENST00000398788.4:c.2909T>C	ENSP00000381768.3:p.Ile970Thr
ENST00000475158.1:n.3165T>C
ENST00000619887.4:c.2909T>C	ENSP00000478374.1:p.Ile970Thr
ENST00000622827.4:c.9629T>C	ENSP00000483211.1:p.Ile3210Thr
ENST00000642965.1:c.3562T>C	ENSP00000495222.1:n.3562T>C
ENST00000647092.1:c.3226T>C	ENSP00000495176.1:n.3226T>C
XM_006717940.2:c.9824T>C	XP_006718003.1:p.Ile3275Thr
XM_006717942.2:c.9758T>C	XP_006718005.1:p.Ile3253Thr
XM_011540039.1:c.9821T>C	XP_011538341.1:p.Ile3274Thr
XM_011540040.1:c.9818T>C	XP_011538342.1:p.Ile3273Thr
XM_011540041.1:c.9764T>C	XP_011538343.1:p.Ile3255Thr
XM_011540042.1:c.9734T>C	XP_011538344.1:p.Ile3245Thr
XM_011540043.1:c.9824T>C	XP_011538345.1:p.Ile3275Thr
XM_011540044.1:c.9689T>C	XP_011538346.1:p.Ile3230Thr
XM_011540045.1:c.9824T>C	XP_011538347.1:p.Ile3275Thr
XM_011540046.1:c.9284T>C	XP_011538348.1:p.Ile3095Thr
XM_011540047.1:c.8642T>C	XP_011538349.1:p.Ile2881Thr
XM_011540052.1:c.6152T>C	XP_011538354.1:p.Ile2051Thr