Canonical Allele Identifier: CA377154732
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793322A>C , CM000672.2:g.71793322A>C GRCh38
NC_000010.10:g.73553079A>C , CM000672.1:g.73553079A>C GRCh37
NC_000010.9:g.73223085A>C NCBI36
NG_008835.1:g.401376A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6394A>C MANE Select ENSP00000224721.9:p.Ile2132Leu
ENST00000224721.10:c.6409A>C ENSP00000224721.8:p.Ile2137Leu
ENST00000622827.4:c.6394A>C ENSP00000483211.1:p.Ile2132Leu
NM_022124.5:c.6394A>C NP_071407.4:p.Ile2132Leu
XM_006717940.2:c.6589A>C XP_006718003.1:p.Ile2197Leu
XM_006717942.2:c.6523A>C XP_006718005.1:p.Ile2175Leu
XM_011540039.1:c.6586A>C XP_011538341.1:p.Ile2196Leu
XM_011540040.1:c.6583A>C XP_011538342.1:p.Ile2195Leu
XM_011540041.1:c.6529A>C XP_011538343.1:p.Ile2177Leu
XM_011540042.1:c.6577+12A>C XP_011538344.1:n.6577+12A>C
XM_011540043.1:c.6589A>C XP_011538345.1:p.Ile2197Leu
XM_011540044.1:c.6454A>C XP_011538346.1:p.Ile2152Leu
XM_011540045.1:c.6589A>C XP_011538347.1:p.Ile2197Leu
XM_011540046.1:c.6049A>C XP_011538348.1:p.Ile2017Leu
XM_011540047.1:c.5407A>C XP_011538349.1:p.Ile1803Leu
XM_011540048.1:c.6589A>C XP_011538350.1:p.Ile2197Leu
XM_011540049.1:c.6589A>C XP_011538351.1:p.Ile2197Leu
XM_011540050.1:c.6589A>C XP_011538352.1:p.Ile2197Leu
XM_011540051.1:c.6589A>C XP_011538353.1:p.Ile2197Leu
XM_011540052.1:c.2917A>C XP_011538354.1:p.Ile973Leu
XR_945796.1:n.6832A>C
NM_022124.6:c.6394A>C MANE Select NP_071407.4:p.Ile2132Leu