Canonical Allele Identifier: CA209474178

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71805927T>C , CM000672.2:g.71805927T>C	GRCh38
NC_000010.10:g.73565684T>C , CM000672.1:g.73565684T>C	GRCh37
NC_000010.9:g.73235690T>C	NCBI36
NG_008835.1:g.413981T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022124.6:c.7994T>C MANE Select	NP_071407.4:p.Ile2665Thr
ENST00000224721.12:c.7994T>C MANE Select	ENSP00000224721.9:p.Ile2665Thr
NM_001171933.1:c.1274T>C	NP_001165404.1:p.Ile425Thr
NM_001171934.1:c.1274T>C	NP_001165405.1:p.Ile425Thr
NM_022124.5:c.7994T>C	NP_071407.4:p.Ile2665Thr
ENST00000224721.10:c.8009T>C	ENSP00000224721.8:p.Ile2670Thr
ENST00000398788.4:c.1274T>C	ENSP00000381768.3:p.Ile425Thr
ENST00000475158.1:n.1530T>C
ENST00000619887.4:c.1274T>C	ENSP00000478374.1:p.Ile425Thr
ENST00000622827.4:c.7994T>C	ENSP00000483211.1:p.Ile2665Thr
ENST00000642965.1:c.1927T>C	ENSP00000495222.1:n.1927T>C
ENST00000647092.1:c.1591T>C	ENSP00000495176.1:n.1591T>C
XM_006717940.2:c.8189T>C	XP_006718003.1:p.Ile2730Thr
XM_006717942.2:c.8123T>C	XP_006718005.1:p.Ile2708Thr
XM_011540039.1:c.8186T>C	XP_011538341.1:p.Ile2729Thr
XM_011540040.1:c.8183T>C	XP_011538342.1:p.Ile2728Thr
XM_011540041.1:c.8129T>C	XP_011538343.1:p.Ile2710Thr
XM_011540042.1:c.8099T>C	XP_011538344.1:p.Ile2700Thr
XM_011540043.1:c.8189T>C	XP_011538345.1:p.Ile2730Thr
XM_011540044.1:c.8054T>C	XP_011538346.1:p.Ile2685Thr
XM_011540045.1:c.8189T>C	XP_011538347.1:p.Ile2730Thr
XM_011540046.1:c.7649T>C	XP_011538348.1:p.Ile2550Thr
XM_011540047.1:c.7007T>C	XP_011538349.1:p.Ile2336Thr
XM_011540052.1:c.4517T>C	XP_011538354.1:p.Ile1506Thr