Canonical Allele Identifier: CA377127733
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71645912A>G , CM000672.2:g.71645912A>G GRCh38
NC_000010.10:g.73405669A>G , CM000672.1:g.73405669A>G GRCh37
NC_000010.9:g.73075675A>G NCBI36
NG_008835.1:g.253966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.1222A>G MANE Select ENSP00000224721.9:p.Lys408Glu
ENST00000398809.9:c.1222A>G ENSP00000381789.5:p.Lys408Glu
ENST00000442677.4:c.1222A>G ENSP00000388894.3:p.Lys408Glu
ENST00000466757.8:c.653A>G
ENST00000643732.1:n.1058A>G
ENST00000646131.1:c.886A>G ENSP00000495098.1:p.Lys296Glu
ENST00000224721.10:c.1237A>G ENSP00000224721.8:p.Lys413Glu
ENST00000299366.11:c.1222A>G ENSP00000299366.8:p.Lys408Glu
ENST00000398809.8:c.1222A>G ENSP00000381789.5:p.Lys408Glu
ENST00000398842.7:c.967A>G ENSP00000381822.4:p.Lys323Glu
ENST00000461841.7:c.1222A>G ENSP00000473454.2:p.Lys408Glu
ENST00000466757.7:c.653A>G
ENST00000470494.5:c.191A>G
ENST00000616684.4:c.1222A>G ENSP00000482036.2:p.Lys408Glu
ENST00000622827.4:c.1222A>G ENSP00000483211.1:p.Lys408Glu
NM_001171930.1:c.1222A>G NP_001165401.1:p.Lys408Glu
NM_001171931.1:c.1222A>G NP_001165402.1:p.Lys408Glu
NM_022124.5:c.1222A>G NP_071407.4:p.Lys408Glu
NM_052836.3:c.1222A>G NP_443068.1:p.Lys408Glu
XM_006717940.2:c.1417A>G XP_006718003.1:p.Lys473Glu
XM_006717942.2:c.1351A>G XP_006718005.1:p.Lys451Glu
XM_011540039.1:c.1417A>G XP_011538341.1:p.Lys473Glu
XM_011540040.1:c.1411A>G XP_011538342.1:p.Lys471Glu
XM_011540041.1:c.1357A>G XP_011538343.1:p.Lys453Glu
XM_011540042.1:c.1417A>G XP_011538344.1:p.Lys473Glu
XM_011540043.1:c.1417A>G XP_011538345.1:p.Lys473Glu
XM_011540044.1:c.1282A>G XP_011538346.1:p.Lys428Glu
XM_011540045.1:c.1417A>G XP_011538347.1:p.Lys473Glu
XM_011540046.1:c.877A>G XP_011538348.1:p.Lys293Glu
XM_011540047.1:c.235A>G XP_011538349.1:p.Lys79Glu
XM_011540048.1:c.1417A>G XP_011538350.1:p.Lys473Glu
XM_011540049.1:c.1417A>G XP_011538351.1:p.Lys473Glu
XM_011540050.1:c.1417A>G XP_011538352.1:p.Lys473Glu
XM_011540051.1:c.1417A>G XP_011538353.1:p.Lys473Glu
XM_011540053.1:c.1417A>G XP_011538355.1:p.Lys473Glu
XM_011540054.1:c.1357A>G XP_011538356.1:p.Lys453Glu
XR_945796.1:n.1660A>G
NM_001171930.2:c.1222A>G NP_001165401.1:p.Lys408Glu
NM_001171931.2:c.1222A>G NP_001165402.1:p.Lys408Glu
NM_022124.6:c.1222A>G MANE Select NP_071407.4:p.Lys408Glu
NM_052836.4:c.1222A>G NP_443068.1:p.Lys408Glu