Canonical Allele Identifier: CA377157800
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798406G>C , CM000672.2:g.71798406G>C GRCh38
NC_000010.10:g.73558163G>C , CM000672.1:g.73558163G>C GRCh37
NC_000010.9:g.73228169G>C NCBI36
NG_008835.1:g.406460G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6882G>C MANE Select ENSP00000224721.9:p.Lys2294Asn
ENST00000642965.1:c.815G>C ENSP00000495222.1:n.815G>C
ENST00000647092.1:c.479G>C ENSP00000495176.1:n.479G>C
ENST00000224721.10:c.6897G>C ENSP00000224721.8:p.Lys2299Asn
ENST00000398788.4:c.162G>C ENSP00000381768.3:p.Lys54Asn
ENST00000475158.1:n.418G>C
ENST00000619887.4:c.162G>C ENSP00000478374.1:p.Lys54Asn
ENST00000622827.4:c.6882G>C ENSP00000483211.1:p.Lys2294Asn
NM_001171933.1:c.162G>C NP_001165404.1:p.Lys54Asn
NM_001171934.1:c.162G>C NP_001165405.1:p.Lys54Asn
NM_022124.5:c.6882G>C NP_071407.4:p.Lys2294Asn
XM_006717940.2:c.7077G>C XP_006718003.1:p.Lys2359Asn
XM_006717942.2:c.7011G>C XP_006718005.1:p.Lys2337Asn
XM_011540039.1:c.7074G>C XP_011538341.1:p.Lys2358Asn
XM_011540040.1:c.7071G>C XP_011538342.1:p.Lys2357Asn
XM_011540041.1:c.7017G>C XP_011538343.1:p.Lys2339Asn
XM_011540042.1:c.6987G>C XP_011538344.1:p.Lys2329Asn
XM_011540043.1:c.7077G>C XP_011538345.1:p.Lys2359Asn
XM_011540044.1:c.6942G>C XP_011538346.1:p.Lys2314Asn
XM_011540045.1:c.7077G>C XP_011538347.1:p.Lys2359Asn
XM_011540046.1:c.6537G>C XP_011538348.1:p.Lys2179Asn
XM_011540047.1:c.5895G>C XP_011538349.1:p.Lys1965Asn
XM_011540052.1:c.3405G>C XP_011538354.1:p.Lys1135Asn
NM_022124.6:c.6882G>C MANE Select NP_071407.4:p.Lys2294Asn