Canonical Allele Identifier: CA5546990

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71811970T>C , CM000672.2:g.71811970T>C	GRCh38
NC_000010.10:g.73571727T>C , CM000672.1:g.73571727T>C	GRCh37
NC_000010.9:g.73241733T>C	NCBI36
NG_008835.1:g.420024T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.9335T>C MANE Select	NP_071407.4:p.Ile3112Thr
ENST00000224721.12:c.9335T>C MANE Select	ENSP00000224721.9:p.Ile3112Thr
NM_001171933.1:c.2615T>C	NP_001165404.1:p.Ile872Thr
NM_001171934.1:c.2615T>C	NP_001165405.1:p.Ile872Thr
NM_001171935.1:c.-322T>C	NP_001165406.1:n.-322T>C
NM_001171936.1:c.-322T>C	NP_001165407.1:n.-322T>C
NM_022124.5:c.9335T>C	NP_071407.4:p.Ile3112Thr
ENST00000224721.10:c.9350T>C	ENSP00000224721.8:p.Ile3117Thr
ENST00000398788.4:c.2615T>C	ENSP00000381768.3:p.Ile872Thr
ENST00000475158.1:n.2871T>C
ENST00000619887.4:c.2615T>C	ENSP00000478374.1:p.Ile872Thr
ENST00000622827.4:c.9335T>C	ENSP00000483211.1:p.Ile3112Thr
ENST00000642965.1:c.3268T>C	ENSP00000495222.1:n.3268T>C
ENST00000647092.1:c.2932T>C	ENSP00000495176.1:n.2932T>C
XM_006717940.2:c.9530T>C	XP_006718003.1:p.Ile3177Thr
XM_006717942.2:c.9464T>C	XP_006718005.1:p.Ile3155Thr
XM_011540039.1:c.9527T>C	XP_011538341.1:p.Ile3176Thr
XM_011540040.1:c.9524T>C	XP_011538342.1:p.Ile3175Thr
XM_011540041.1:c.9470T>C	XP_011538343.1:p.Ile3157Thr
XM_011540042.1:c.9440T>C	XP_011538344.1:p.Ile3147Thr
XM_011540043.1:c.9530T>C	XP_011538345.1:p.Ile3177Thr
XM_011540044.1:c.9395T>C	XP_011538346.1:p.Ile3132Thr
XM_011540045.1:c.9530T>C	XP_011538347.1:p.Ile3177Thr
XM_011540046.1:c.8990T>C	XP_011538348.1:p.Ile2997Thr
XM_011540047.1:c.8348T>C	XP_011538349.1:p.Ile2783Thr
XM_011540052.1:c.5858T>C	XP_011538354.1:p.Ile1953Thr