Canonical Allele Identifier: CA5543550
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 420355
dbSNP Id: rs370782827

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71577932A>G , CM000672.2:g.71577932A>G GRCh38
NC_000010.10:g.73337689A>G , CM000672.1:g.73337689A>G GRCh37
NC_000010.9:g.73007695A>G NCBI36
NG_008835.1:g.185986A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.772A>G MANE Select ENSP00000224721.9:p.Ile258Val
ENST00000398809.9:c.772A>G ENSP00000381789.5:p.Ile258Val
ENST00000442677.4:c.772A>G ENSP00000388894.3:p.Ile258Val
ENST00000466757.8:c.143A>G
ENST00000643732.1:n.548A>G
ENST00000646131.1:c.436A>G ENSP00000495098.1:p.Ile146Val
ENST00000224721.10:c.787A>G ENSP00000224721.8:p.Ile263Val
ENST00000299366.11:c.772A>G ENSP00000299366.8:p.Ile258Val
ENST00000398809.8:c.772A>G ENSP00000381789.5:p.Ile258Val
ENST00000398842.7:c.523A>G ENSP00000381822.4:p.Ile175Val
ENST00000461841.7:c.772A>G ENSP00000473454.2:p.Ile258Val
ENST00000466757.7:c.143A>G
ENST00000616684.4:c.772A>G ENSP00000482036.2:p.Ile258Val
ENST00000622827.4:c.772A>G ENSP00000483211.1:p.Ile258Val
NM_001171930.1:c.772A>G NP_001165401.1:p.Ile258Val
NM_001171931.1:c.772A>G NP_001165402.1:p.Ile258Val
NM_001171932.1:c.772A>G NP_001165403.1:p.Ile258Val
NM_022124.5:c.772A>G NP_071407.4:p.Ile258Val
NM_052836.3:c.772A>G NP_443068.1:p.Ile258Val
XM_006717940.2:c.907A>G XP_006718003.1:p.Ile303Val
XM_006717942.2:c.907A>G XP_006718005.1:p.Ile303Val
XM_011540039.1:c.907A>G XP_011538341.1:p.Ile303Val
XM_011540040.1:c.907A>G XP_011538342.1:p.Ile303Val
XM_011540041.1:c.907A>G XP_011538343.1:p.Ile303Val
XM_011540042.1:c.907A>G XP_011538344.1:p.Ile303Val
XM_011540043.1:c.907A>G XP_011538345.1:p.Ile303Val
XM_011540044.1:c.772A>G XP_011538346.1:p.Ile258Val
XM_011540045.1:c.907A>G XP_011538347.1:p.Ile303Val
XM_011540046.1:c.367A>G XP_011538348.1:p.Ile123Val
XM_011540048.1:c.907A>G XP_011538350.1:p.Ile303Val
XM_011540049.1:c.907A>G XP_011538351.1:p.Ile303Val
XM_011540050.1:c.907A>G XP_011538352.1:p.Ile303Val
XM_011540051.1:c.907A>G XP_011538353.1:p.Ile303Val
XM_011540053.1:c.907A>G XP_011538355.1:p.Ile303Val
XM_011540054.1:c.907A>G XP_011538356.1:p.Ile303Val
XR_246128.2:n.161+6952T>C
XR_945796.1:n.1150A>G
NM_001171930.2:c.772A>G NP_001165401.1:p.Ile258Val
NM_001171931.2:c.772A>G NP_001165402.1:p.Ile258Val
NM_022124.6:c.772A>G MANE Select NP_071407.4:p.Ile258Val
NM_052836.4:c.772A>G NP_443068.1:p.Ile258Val
NM_001171932.2:c.772A>G NP_001165403.1:p.Ile258Val