Canonical Allele Identifier: CA377158103
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798497A>C , CM000672.2:g.71798497A>C GRCh38
NC_000010.10:g.73558254A>C , CM000672.1:g.73558254A>C GRCh37
NC_000010.9:g.73228260A>C NCBI36
NG_008835.1:g.406551A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6973A>C MANE Select ENSP00000224721.9:p.Lys2325Gln
ENST00000642965.1:c.906A>C ENSP00000495222.1:n.906A>C
ENST00000647092.1:c.570A>C ENSP00000495176.1:n.570A>C
ENST00000224721.10:c.6988A>C ENSP00000224721.8:p.Lys2330Gln
ENST00000398788.4:c.253A>C ENSP00000381768.3:p.Lys85Gln
ENST00000475158.1:n.509A>C
ENST00000619887.4:c.253A>C ENSP00000478374.1:p.Lys85Gln
ENST00000622827.4:c.6973A>C ENSP00000483211.1:p.Lys2325Gln
NM_001171933.1:c.253A>C NP_001165404.1:p.Lys85Gln
NM_001171934.1:c.253A>C NP_001165405.1:p.Lys85Gln
NM_022124.5:c.6973A>C NP_071407.4:p.Lys2325Gln
XM_006717940.2:c.7168A>C XP_006718003.1:p.Lys2390Gln
XM_006717942.2:c.7102A>C XP_006718005.1:p.Lys2368Gln
XM_011540039.1:c.7165A>C XP_011538341.1:p.Lys2389Gln
XM_011540040.1:c.7162A>C XP_011538342.1:p.Lys2388Gln
XM_011540041.1:c.7108A>C XP_011538343.1:p.Lys2370Gln
XM_011540042.1:c.7078A>C XP_011538344.1:p.Lys2360Gln
XM_011540043.1:c.7168A>C XP_011538345.1:p.Lys2390Gln
XM_011540044.1:c.7033A>C XP_011538346.1:p.Lys2345Gln
XM_011540045.1:c.7168A>C XP_011538347.1:p.Lys2390Gln
XM_011540046.1:c.6628A>C XP_011538348.1:p.Lys2210Gln
XM_011540047.1:c.5986A>C XP_011538349.1:p.Lys1996Gln
XM_011540052.1:c.3496A>C XP_011538354.1:p.Lys1166Gln
NM_022124.6:c.6973A>C MANE Select NP_071407.4:p.Lys2325Gln