Canonical Allele Identifier: CA377159095
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799492G>A , CM000672.2:g.71799492G>A GRCh38
NC_000010.10:g.73559249G>A , CM000672.1:g.73559249G>A GRCh37
NC_000010.9:g.73229255G>A NCBI36
NG_008835.1:g.407546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7225G>A MANE Select ENSP00000224721.9:p.Glu2409Lys
ENST00000642965.1:c.1158G>A ENSP00000495222.1:n.1158G>A
ENST00000647092.1:c.822G>A ENSP00000495176.1:n.822G>A
ENST00000224721.10:c.7240G>A ENSP00000224721.8:p.Glu2414Lys
ENST00000398788.4:c.505G>A ENSP00000381768.3:p.Glu169Lys
ENST00000475158.1:n.761G>A
ENST00000619887.4:c.505G>A ENSP00000478374.1:p.Glu169Lys
ENST00000622827.4:c.7225G>A ENSP00000483211.1:p.Glu2409Lys
NM_001171933.1:c.505G>A NP_001165404.1:p.Glu169Lys
NM_001171934.1:c.505G>A NP_001165405.1:p.Glu169Lys
NM_022124.5:c.7225G>A NP_071407.4:p.Glu2409Lys
XM_006717940.2:c.7420G>A XP_006718003.1:p.Glu2474Lys
XM_006717942.2:c.7354G>A XP_006718005.1:p.Glu2452Lys
XM_011540039.1:c.7417G>A XP_011538341.1:p.Glu2473Lys
XM_011540040.1:c.7414G>A XP_011538342.1:p.Glu2472Lys
XM_011540041.1:c.7360G>A XP_011538343.1:p.Glu2454Lys
XM_011540042.1:c.7330G>A XP_011538344.1:p.Glu2444Lys
XM_011540043.1:c.7420G>A XP_011538345.1:p.Glu2474Lys
XM_011540044.1:c.7285G>A XP_011538346.1:p.Glu2429Lys
XM_011540045.1:c.7420G>A XP_011538347.1:p.Glu2474Lys
XM_011540046.1:c.6880G>A XP_011538348.1:p.Glu2294Lys
XM_011540047.1:c.6238G>A XP_011538349.1:p.Glu2080Lys
XM_011540052.1:c.3748G>A XP_011538354.1:p.Glu1250Lys
NM_022124.6:c.7225G>A MANE Select NP_071407.4:p.Glu2409Lys