Canonical Allele Identifier: CA377157789
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798404A>C , CM000672.2:g.71798404A>C GRCh38
NC_000010.10:g.73558161A>C , CM000672.1:g.73558161A>C GRCh37
NC_000010.9:g.73228167A>C NCBI36
NG_008835.1:g.406458A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6880A>C MANE Select ENSP00000224721.9:p.Lys2294Gln
ENST00000642965.1:c.813A>C ENSP00000495222.1:n.813A>C
ENST00000647092.1:c.477A>C ENSP00000495176.1:n.477A>C
ENST00000224721.10:c.6895A>C ENSP00000224721.8:p.Lys2299Gln
ENST00000398788.4:c.160A>C ENSP00000381768.3:p.Lys54Gln
ENST00000475158.1:n.416A>C
ENST00000619887.4:c.160A>C ENSP00000478374.1:p.Lys54Gln
ENST00000622827.4:c.6880A>C ENSP00000483211.1:p.Lys2294Gln
NM_001171933.1:c.160A>C NP_001165404.1:p.Lys54Gln
NM_001171934.1:c.160A>C NP_001165405.1:p.Lys54Gln
NM_022124.5:c.6880A>C NP_071407.4:p.Lys2294Gln
XM_006717940.2:c.7075A>C XP_006718003.1:p.Lys2359Gln
XM_006717942.2:c.7009A>C XP_006718005.1:p.Lys2337Gln
XM_011540039.1:c.7072A>C XP_011538341.1:p.Lys2358Gln
XM_011540040.1:c.7069A>C XP_011538342.1:p.Lys2357Gln
XM_011540041.1:c.7015A>C XP_011538343.1:p.Lys2339Gln
XM_011540042.1:c.6985A>C XP_011538344.1:p.Lys2329Gln
XM_011540043.1:c.7075A>C XP_011538345.1:p.Lys2359Gln
XM_011540044.1:c.6940A>C XP_011538346.1:p.Lys2314Gln
XM_011540045.1:c.7075A>C XP_011538347.1:p.Lys2359Gln
XM_011540046.1:c.6535A>C XP_011538348.1:p.Lys2179Gln
XM_011540047.1:c.5893A>C XP_011538349.1:p.Lys1965Gln
XM_011540052.1:c.3403A>C XP_011538354.1:p.Lys1135Gln
NM_022124.6:c.6880A>C MANE Select NP_071407.4:p.Lys2294Gln