Canonical Allele Identifier: CA377159312
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799543G>C , CM000672.2:g.71799543G>C GRCh38
NC_000010.10:g.73559300G>C , CM000672.1:g.73559300G>C GRCh37
NC_000010.9:g.73229306G>C NCBI36
NG_008835.1:g.407597G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7276G>C MANE Select ENSP00000224721.9:p.Ala2426Pro
ENST00000642965.1:c.1209G>C ENSP00000495222.1:n.1209G>C
ENST00000647092.1:c.873G>C ENSP00000495176.1:n.873G>C
ENST00000224721.10:c.7291G>C ENSP00000224721.8:p.Ala2431Pro
ENST00000398788.4:c.556G>C ENSP00000381768.3:p.Ala186Pro
ENST00000475158.1:n.812G>C
ENST00000619887.4:c.556G>C ENSP00000478374.1:p.Ala186Pro
ENST00000622827.4:c.7276G>C ENSP00000483211.1:p.Ala2426Pro
NM_001171933.1:c.556G>C NP_001165404.1:p.Ala186Pro
NM_001171934.1:c.556G>C NP_001165405.1:p.Ala186Pro
NM_022124.5:c.7276G>C NP_071407.4:p.Ala2426Pro
XM_006717940.2:c.7471G>C XP_006718003.1:p.Ala2491Pro
XM_006717942.2:c.7405G>C XP_006718005.1:p.Ala2469Pro
XM_011540039.1:c.7468G>C XP_011538341.1:p.Ala2490Pro
XM_011540040.1:c.7465G>C XP_011538342.1:p.Ala2489Pro
XM_011540041.1:c.7411G>C XP_011538343.1:p.Ala2471Pro
XM_011540042.1:c.7381G>C XP_011538344.1:p.Ala2461Pro
XM_011540043.1:c.7471G>C XP_011538345.1:p.Ala2491Pro
XM_011540044.1:c.7336G>C XP_011538346.1:p.Ala2446Pro
XM_011540045.1:c.7471G>C XP_011538347.1:p.Ala2491Pro
XM_011540046.1:c.6931G>C XP_011538348.1:p.Ala2311Pro
XM_011540047.1:c.6289G>C XP_011538349.1:p.Ala2097Pro
XM_011540052.1:c.3799G>C XP_011538354.1:p.Ala1267Pro
NM_022124.6:c.7276G>C MANE Select NP_071407.4:p.Ala2426Pro