Canonical Allele Identifier: CA377157647
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798362A>T , CM000672.2:g.71798362A>T GRCh38
NC_000010.10:g.73558119A>T , CM000672.1:g.73558119A>T GRCh37
NC_000010.9:g.73228125A>T NCBI36
NG_008835.1:g.406416A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6838A>T MANE Select ENSP00000224721.9:p.Thr2280Ser
ENST00000642965.1:c.771A>T ENSP00000495222.1:n.771A>T
ENST00000647092.1:c.435A>T ENSP00000495176.1:n.435A>T
ENST00000224721.10:c.6853A>T ENSP00000224721.8:p.Thr2285Ser
ENST00000398788.4:c.118A>T ENSP00000381768.3:p.Thr40Ser
ENST00000475158.1:n.374A>T
ENST00000619887.4:c.118A>T ENSP00000478374.1:p.Thr40Ser
ENST00000622827.4:c.6838A>T ENSP00000483211.1:p.Thr2280Ser
NM_001171933.1:c.118A>T NP_001165404.1:p.Thr40Ser
NM_001171934.1:c.118A>T NP_001165405.1:p.Thr40Ser
NM_022124.5:c.6838A>T NP_071407.4:p.Thr2280Ser
XM_006717940.2:c.7033A>T XP_006718003.1:p.Thr2345Ser
XM_006717942.2:c.6967A>T XP_006718005.1:p.Thr2323Ser
XM_011540039.1:c.7030A>T XP_011538341.1:p.Thr2344Ser
XM_011540040.1:c.7027A>T XP_011538342.1:p.Thr2343Ser
XM_011540041.1:c.6973A>T XP_011538343.1:p.Thr2325Ser
XM_011540042.1:c.6943A>T XP_011538344.1:p.Thr2315Ser
XM_011540043.1:c.7033A>T XP_011538345.1:p.Thr2345Ser
XM_011540044.1:c.6898A>T XP_011538346.1:p.Thr2300Ser
XM_011540045.1:c.7033A>T XP_011538347.1:p.Thr2345Ser
XM_011540046.1:c.6493A>T XP_011538348.1:p.Thr2165Ser
XM_011540047.1:c.5851A>T XP_011538349.1:p.Thr1951Ser
XM_011540052.1:c.3361A>T XP_011538354.1:p.Thr1121Ser
NM_022124.6:c.6838A>T MANE Select NP_071407.4:p.Thr2280Ser