Canonical Allele Identifier: CA377131487
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807617A>T , CM000672.2:g.71807617A>T GRCh38
NC_000010.10:g.73567374A>T , CM000672.1:g.73567374A>T GRCh37
NC_000010.9:g.73237380A>T NCBI36
NG_008835.1:g.415671A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8410A>T MANE Select ENSP00000224721.9:p.Lys2804Ter
ENST00000642965.1:c.2343A>T ENSP00000495222.1:n.2343A>T
ENST00000647092.1:c.2007A>T ENSP00000495176.1:n.2007A>T
ENST00000224721.10:c.8425A>T ENSP00000224721.8:p.Lys2809Ter
ENST00000398788.4:c.1690A>T ENSP00000381768.3:p.Lys564Ter
ENST00000475158.1:n.1946A>T
ENST00000619887.4:c.1690A>T ENSP00000478374.1:p.Lys564Ter
ENST00000622827.4:c.8410A>T ENSP00000483211.1:p.Lys2804Ter
NM_001171933.1:c.1690A>T NP_001165404.1:p.Lys564Ter
NM_001171934.1:c.1690A>T NP_001165405.1:p.Lys564Ter
NM_022124.5:c.8410A>T NP_071407.4:p.Lys2804Ter
XM_006717940.2:c.8605A>T XP_006718003.1:p.Lys2869Ter
XM_006717942.2:c.8539A>T XP_006718005.1:p.Lys2847Ter
XM_011540039.1:c.8602A>T XP_011538341.1:p.Lys2868Ter
XM_011540040.1:c.8599A>T XP_011538342.1:p.Lys2867Ter
XM_011540041.1:c.8545A>T XP_011538343.1:p.Lys2849Ter
XM_011540042.1:c.8515A>T XP_011538344.1:p.Lys2839Ter
XM_011540043.1:c.8605A>T XP_011538345.1:p.Lys2869Ter
XM_011540044.1:c.8470A>T XP_011538346.1:p.Lys2824Ter
XM_011540045.1:c.8605A>T XP_011538347.1:p.Lys2869Ter
XM_011540046.1:c.8065A>T XP_011538348.1:p.Lys2689Ter
XM_011540047.1:c.7423A>T XP_011538349.1:p.Lys2475Ter
XM_011540052.1:c.4933A>T XP_011538354.1:p.Lys1645Ter
NM_022124.6:c.8410A>T MANE Select NP_071407.4:p.Lys2804Ter