Canonical Allele Identifier: CA377131492
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807620G>A , CM000672.2:g.71807620G>A GRCh38
NC_000010.10:g.73567377G>A , CM000672.1:g.73567377G>A GRCh37
NC_000010.9:g.73237383G>A NCBI36
NG_008835.1:g.415674G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8413G>A MANE Select ENSP00000224721.9:p.Ala2805Thr
ENST00000642965.1:c.2346G>A ENSP00000495222.1:n.2346G>A
ENST00000647092.1:c.2010G>A ENSP00000495176.1:n.2010G>A
ENST00000224721.10:c.8428G>A ENSP00000224721.8:p.Ala2810Thr
ENST00000398788.4:c.1693G>A ENSP00000381768.3:p.Ala565Thr
ENST00000475158.1:n.1949G>A
ENST00000619887.4:c.1693G>A ENSP00000478374.1:p.Ala565Thr
ENST00000622827.4:c.8413G>A ENSP00000483211.1:p.Ala2805Thr
NM_001171933.1:c.1693G>A NP_001165404.1:p.Ala565Thr
NM_001171934.1:c.1693G>A NP_001165405.1:p.Ala565Thr
NM_022124.5:c.8413G>A NP_071407.4:p.Ala2805Thr
XM_006717940.2:c.8608G>A XP_006718003.1:p.Ala2870Thr
XM_006717942.2:c.8542G>A XP_006718005.1:p.Ala2848Thr
XM_011540039.1:c.8605G>A XP_011538341.1:p.Ala2869Thr
XM_011540040.1:c.8602G>A XP_011538342.1:p.Ala2868Thr
XM_011540041.1:c.8548G>A XP_011538343.1:p.Ala2850Thr
XM_011540042.1:c.8518G>A XP_011538344.1:p.Ala2840Thr
XM_011540043.1:c.8608G>A XP_011538345.1:p.Ala2870Thr
XM_011540044.1:c.8473G>A XP_011538346.1:p.Ala2825Thr
XM_011540045.1:c.8608G>A XP_011538347.1:p.Ala2870Thr
XM_011540046.1:c.8068G>A XP_011538348.1:p.Ala2690Thr
XM_011540047.1:c.7426G>A XP_011538349.1:p.Ala2476Thr
XM_011540052.1:c.4936G>A XP_011538354.1:p.Ala1646Thr
NM_022124.6:c.8413G>A MANE Select NP_071407.4:p.Ala2805Thr