Canonical Allele Identifier: CA377157776
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798401T>A , CM000672.2:g.71798401T>A GRCh38
NC_000010.10:g.73558158T>A , CM000672.1:g.73558158T>A GRCh37
NC_000010.9:g.73228164T>A NCBI36
NG_008835.1:g.406455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6877T>A MANE Select ENSP00000224721.9:p.Phe2293Ile
ENST00000642965.1:c.810T>A ENSP00000495222.1:n.810T>A
ENST00000647092.1:c.474T>A ENSP00000495176.1:n.474T>A
ENST00000224721.10:c.6892T>A ENSP00000224721.8:p.Phe2298Ile
ENST00000398788.4:c.157T>A ENSP00000381768.3:p.Phe53Ile
ENST00000475158.1:n.413T>A
ENST00000619887.4:c.157T>A ENSP00000478374.1:p.Phe53Ile
ENST00000622827.4:c.6877T>A ENSP00000483211.1:p.Phe2293Ile
NM_001171933.1:c.157T>A NP_001165404.1:p.Phe53Ile
NM_001171934.1:c.157T>A NP_001165405.1:p.Phe53Ile
NM_022124.5:c.6877T>A NP_071407.4:p.Phe2293Ile
XM_006717940.2:c.7072T>A XP_006718003.1:p.Phe2358Ile
XM_006717942.2:c.7006T>A XP_006718005.1:p.Phe2336Ile
XM_011540039.1:c.7069T>A XP_011538341.1:p.Phe2357Ile
XM_011540040.1:c.7066T>A XP_011538342.1:p.Phe2356Ile
XM_011540041.1:c.7012T>A XP_011538343.1:p.Phe2338Ile
XM_011540042.1:c.6982T>A XP_011538344.1:p.Phe2328Ile
XM_011540043.1:c.7072T>A XP_011538345.1:p.Phe2358Ile
XM_011540044.1:c.6937T>A XP_011538346.1:p.Phe2313Ile
XM_011540045.1:c.7072T>A XP_011538347.1:p.Phe2358Ile
XM_011540046.1:c.6532T>A XP_011538348.1:p.Phe2178Ile
XM_011540047.1:c.5890T>A XP_011538349.1:p.Phe1964Ile
XM_011540052.1:c.3400T>A XP_011538354.1:p.Phe1134Ile
NM_022124.6:c.6877T>A MANE Select NP_071407.4:p.Phe2293Ile