Canonical Allele Identifier: CA377131474
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807610C>A , CM000672.2:g.71807610C>A GRCh38
NC_000010.10:g.73567367C>A , CM000672.1:g.73567367C>A GRCh37
NC_000010.9:g.73237373C>A NCBI36
NG_008835.1:g.415664C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8403C>A MANE Select ENSP00000224721.9:p.Phe2801Leu
ENST00000642965.1:c.2336C>A ENSP00000495222.1:n.2336C>A
ENST00000647092.1:c.2000C>A ENSP00000495176.1:n.2000C>A
ENST00000224721.10:c.8418C>A ENSP00000224721.8:p.Phe2806Leu
ENST00000398788.4:c.1683C>A ENSP00000381768.3:p.Phe561Leu
ENST00000475158.1:n.1939C>A
ENST00000619887.4:c.1683C>A ENSP00000478374.1:p.Phe561Leu
ENST00000622827.4:c.8403C>A ENSP00000483211.1:p.Phe2801Leu
NM_001171933.1:c.1683C>A NP_001165404.1:p.Phe561Leu
NM_001171934.1:c.1683C>A NP_001165405.1:p.Phe561Leu
NM_022124.5:c.8403C>A NP_071407.4:p.Phe2801Leu
XM_006717940.2:c.8598C>A XP_006718003.1:p.Phe2866Leu
XM_006717942.2:c.8532C>A XP_006718005.1:p.Phe2844Leu
XM_011540039.1:c.8595C>A XP_011538341.1:p.Phe2865Leu
XM_011540040.1:c.8592C>A XP_011538342.1:p.Phe2864Leu
XM_011540041.1:c.8538C>A XP_011538343.1:p.Phe2846Leu
XM_011540042.1:c.8508C>A XP_011538344.1:p.Phe2836Leu
XM_011540043.1:c.8598C>A XP_011538345.1:p.Phe2866Leu
XM_011540044.1:c.8463C>A XP_011538346.1:p.Phe2821Leu
XM_011540045.1:c.8598C>A XP_011538347.1:p.Phe2866Leu
XM_011540046.1:c.8058C>A XP_011538348.1:p.Phe2686Leu
XM_011540047.1:c.7416C>A XP_011538349.1:p.Phe2472Leu
XM_011540052.1:c.4926C>A XP_011538354.1:p.Phe1642Leu
NM_022124.6:c.8403C>A MANE Select NP_071407.4:p.Phe2801Leu