Canonical Allele Identifier: CA377160848
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71803027G>C , CM000672.2:g.71803027G>C GRCh38
NC_000010.10:g.73562784G>C , CM000672.1:g.73562784G>C GRCh37
NC_000010.9:g.73232790G>C NCBI36
NG_008835.1:g.411081G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7612G>C MANE Select ENSP00000224721.9:p.Glu2538Gln
ENST00000642965.1:c.1545G>C ENSP00000495222.1:n.1545G>C
ENST00000647092.1:c.1209G>C ENSP00000495176.1:n.1209G>C
ENST00000224721.10:c.7627G>C ENSP00000224721.8:p.Glu2543Gln
ENST00000398788.4:c.892G>C ENSP00000381768.3:p.Glu298Gln
ENST00000475158.1:n.1148G>C
ENST00000619887.4:c.892G>C ENSP00000478374.1:p.Glu298Gln
ENST00000622827.4:c.7612G>C ENSP00000483211.1:p.Glu2538Gln
NM_001171933.1:c.892G>C NP_001165404.1:p.Glu298Gln
NM_001171934.1:c.892G>C NP_001165405.1:p.Glu298Gln
NM_022124.5:c.7612G>C NP_071407.4:p.Glu2538Gln
XM_006717940.2:c.7807G>C XP_006718003.1:p.Glu2603Gln
XM_006717942.2:c.7741G>C XP_006718005.1:p.Glu2581Gln
XM_011540039.1:c.7804G>C XP_011538341.1:p.Glu2602Gln
XM_011540040.1:c.7801G>C XP_011538342.1:p.Glu2601Gln
XM_011540041.1:c.7747G>C XP_011538343.1:p.Glu2583Gln
XM_011540042.1:c.7717G>C XP_011538344.1:p.Glu2573Gln
XM_011540043.1:c.7807G>C XP_011538345.1:p.Glu2603Gln
XM_011540044.1:c.7672G>C XP_011538346.1:p.Glu2558Gln
XM_011540045.1:c.7807G>C XP_011538347.1:p.Glu2603Gln
XM_011540046.1:c.7267G>C XP_011538348.1:p.Glu2423Gln
XM_011540047.1:c.6625G>C XP_011538349.1:p.Glu2209Gln
XM_011540052.1:c.4135G>C XP_011538354.1:p.Glu1379Gln
NM_022124.6:c.7612G>C MANE Select NP_071407.4:p.Glu2538Gln