Canonical Allele Identifier: CA377127834
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1368507
ClinVar RCV Id: RCV001894669
dbSNP Id: rs2132595078

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71645957A>T , CM000672.2:g.71645957A>T GRCh38
NC_000010.10:g.73405714A>T , CM000672.1:g.73405714A>T GRCh37
NC_000010.9:g.73075720A>T NCBI36
NG_008835.1:g.254011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.1267A>T MANE Select ENSP00000224721.9:p.Thr423Ser
ENST00000398809.9:c.1267A>T ENSP00000381789.5:p.Thr423Ser
ENST00000442677.4:c.1267A>T ENSP00000388894.3:p.Thr423Ser
ENST00000466757.8:c.698A>T
ENST00000643732.1:n.1103A>T
ENST00000646131.1:c.931A>T ENSP00000495098.1:p.Thr311Ser
ENST00000224721.10:c.1282A>T ENSP00000224721.8:p.Thr428Ser
ENST00000299366.11:c.1267A>T ENSP00000299366.8:p.Thr423Ser
ENST00000398809.8:c.1267A>T ENSP00000381789.5:p.Thr423Ser
ENST00000398842.7:c.1012A>T ENSP00000381822.4:p.Thr338Ser
ENST00000442677.3:c.42A>T
ENST00000461841.7:c.1267A>T ENSP00000473454.2:p.Thr423Ser
ENST00000466757.7:c.698A>T
ENST00000470494.5:c.236A>T
ENST00000616684.4:c.1267A>T ENSP00000482036.2:p.Thr423Ser
ENST00000622827.4:c.1267A>T ENSP00000483211.1:p.Thr423Ser
NM_001171930.1:c.1267A>T NP_001165401.1:p.Thr423Ser
NM_001171931.1:c.1267A>T NP_001165402.1:p.Thr423Ser
NM_022124.5:c.1267A>T NP_071407.4:p.Thr423Ser
NM_052836.3:c.1267A>T NP_443068.1:p.Thr423Ser
XM_006717940.2:c.1462A>T XP_006718003.1:p.Thr488Ser
XM_006717942.2:c.1396A>T XP_006718005.1:p.Thr466Ser
XM_011540039.1:c.1462A>T XP_011538341.1:p.Thr488Ser
XM_011540040.1:c.1456A>T XP_011538342.1:p.Thr486Ser
XM_011540041.1:c.1402A>T XP_011538343.1:p.Thr468Ser
XM_011540042.1:c.1462A>T XP_011538344.1:p.Thr488Ser
XM_011540043.1:c.1462A>T XP_011538345.1:p.Thr488Ser
XM_011540044.1:c.1327A>T XP_011538346.1:p.Thr443Ser
XM_011540045.1:c.1462A>T XP_011538347.1:p.Thr488Ser
XM_011540046.1:c.922A>T XP_011538348.1:p.Thr308Ser
XM_011540047.1:c.280A>T XP_011538349.1:p.Thr94Ser
XM_011540048.1:c.1462A>T XP_011538350.1:p.Thr488Ser
XM_011540049.1:c.1462A>T XP_011538351.1:p.Thr488Ser
XM_011540050.1:c.1462A>T XP_011538352.1:p.Thr488Ser
XM_011540051.1:c.1462A>T XP_011538353.1:p.Thr488Ser
XM_011540053.1:c.1462A>T XP_011538355.1:p.Thr488Ser
XM_011540054.1:c.1402A>T XP_011538356.1:p.Thr468Ser
XR_945796.1:n.1705A>T
NM_001171930.2:c.1267A>T NP_001165401.1:p.Thr423Ser
NM_001171931.2:c.1267A>T NP_001165402.1:p.Thr423Ser
NM_022124.6:c.1267A>T MANE Select NP_071407.4:p.Thr423Ser
NM_052836.4:c.1267A>T NP_443068.1:p.Thr423Ser