Canonical Allele Identifier: CA377143443
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064874
ClinVar RCV Id: RCV001375050
dbSNP Id: rs2132751525

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71709206C>A , CM000672.2:g.71709206C>A GRCh38
NC_000010.10:g.73468963C>A , CM000672.1:g.73468963C>A GRCh37
NC_000010.9:g.73138969C>A NCBI36
NG_008835.1:g.317260C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3215C>A MANE Select ENSP00000224721.9:p.Ala1072Asp
ENST00000398809.9:c.3215C>A ENSP00000381789.5:p.Ala1072Asp
ENST00000442677.4:c.3215C>A ENSP00000388894.3:p.Ala1072Asp
ENST00000466757.8:c.2646C>A
ENST00000224721.10:c.3230C>A ENSP00000224721.8:p.Ala1077Asp
ENST00000398809.8:c.3215C>A ENSP00000381789.5:p.Ala1072Asp
ENST00000442677.3:c.1990C>A
ENST00000466757.7:c.2646C>A
ENST00000616684.4:c.3215C>A ENSP00000482036.2:p.Ala1072Asp
ENST00000622827.4:c.3215C>A ENSP00000483211.1:p.Ala1072Asp
NM_001171930.1:c.3215C>A NP_001165401.1:p.Ala1072Asp
NM_022124.5:c.3215C>A NP_071407.4:p.Ala1072Asp
XM_006717940.2:c.3410C>A XP_006718003.1:p.Ala1137Asp
XM_006717942.2:c.3344C>A XP_006718005.1:p.Ala1115Asp
XM_011540039.1:c.3410C>A XP_011538341.1:p.Ala1137Asp
XM_011540040.1:c.3404C>A XP_011538342.1:p.Ala1135Asp
XM_011540041.1:c.3350C>A XP_011538343.1:p.Ala1117Asp
XM_011540042.1:c.3410C>A XP_011538344.1:p.Ala1137Asp
XM_011540043.1:c.3410C>A XP_011538345.1:p.Ala1137Asp
XM_011540044.1:c.3275C>A XP_011538346.1:p.Ala1092Asp
XM_011540045.1:c.3410C>A XP_011538347.1:p.Ala1137Asp
XM_011540046.1:c.2870C>A XP_011538348.1:p.Ala957Asp
XM_011540047.1:c.2228C>A XP_011538349.1:p.Ala743Asp
XM_011540048.1:c.3410C>A XP_011538350.1:p.Ala1137Asp
XM_011540049.1:c.3410C>A XP_011538351.1:p.Ala1137Asp
XM_011540050.1:c.3410C>A XP_011538352.1:p.Ala1137Asp
XM_011540051.1:c.3410C>A XP_011538353.1:p.Ala1137Asp
XM_011540053.1:c.3410C>A XP_011538355.1:p.Ala1137Asp
XR_945796.1:n.3653C>A
NM_001171930.2:c.3215C>A NP_001165401.1:p.Ala1072Asp
NM_022124.6:c.3215C>A MANE Select NP_071407.4:p.Ala1072Asp