Canonical Allele Identifier: CA377158105
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6973A>G MANE Select ENSP00000224721.9:p.Lys2325Glu
ENST00000642965.1:c.906A>G ENSP00000495222.1:n.906A>G
ENST00000647092.1:c.570A>G ENSP00000495176.1:n.570A>G
ENST00000224721.10:c.6988A>G ENSP00000224721.8:p.Lys2330Glu
ENST00000398788.4:c.253A>G ENSP00000381768.3:p.Lys85Glu
ENST00000475158.1:n.509A>G
ENST00000619887.4:c.253A>G ENSP00000478374.1:p.Lys85Glu
ENST00000622827.4:c.6973A>G ENSP00000483211.1:p.Lys2325Glu
NM_001171933.1:c.253A>G NP_001165404.1:p.Lys85Glu
NM_001171934.1:c.253A>G NP_001165405.1:p.Lys85Glu
NM_022124.5:c.6973A>G NP_071407.4:p.Lys2325Glu
XM_006717940.2:c.7168A>G XP_006718003.1:p.Lys2390Glu
XM_006717942.2:c.7102A>G XP_006718005.1:p.Lys2368Glu
XM_011540039.1:c.7165A>G XP_011538341.1:p.Lys2389Glu
XM_011540040.1:c.7162A>G XP_011538342.1:p.Lys2388Glu
XM_011540041.1:c.7108A>G XP_011538343.1:p.Lys2370Glu
XM_011540042.1:c.7078A>G XP_011538344.1:p.Lys2360Glu
XM_011540043.1:c.7168A>G XP_011538345.1:p.Lys2390Glu
XM_011540044.1:c.7033A>G XP_011538346.1:p.Lys2345Glu
XM_011540045.1:c.7168A>G XP_011538347.1:p.Lys2390Glu
XM_011540046.1:c.6628A>G XP_011538348.1:p.Lys2210Glu
XM_011540047.1:c.5986A>G XP_011538349.1:p.Lys1996Glu
XM_011540052.1:c.3496A>G XP_011538354.1:p.Lys1166Glu
NM_022124.6:c.6973A>G MANE Select NP_071407.4:p.Lys2325Glu