Canonical Allele Identifier: CA377158099
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798495A>C , CM000672.2:g.71798495A>C GRCh38
NC_000010.10:g.73558252A>C , CM000672.1:g.73558252A>C GRCh37
NC_000010.9:g.73228258A>C NCBI36
NG_008835.1:g.406549A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6971A>C MANE Select ENSP00000224721.9:p.Asp2324Ala
ENST00000642965.1:c.904A>C ENSP00000495222.1:n.904A>C
ENST00000647092.1:c.568A>C ENSP00000495176.1:n.568A>C
ENST00000224721.10:c.6986A>C ENSP00000224721.8:p.Asp2329Ala
ENST00000398788.4:c.251A>C ENSP00000381768.3:p.Asp84Ala
ENST00000475158.1:n.507A>C
ENST00000619887.4:c.251A>C ENSP00000478374.1:p.Asp84Ala
ENST00000622827.4:c.6971A>C ENSP00000483211.1:p.Asp2324Ala
NM_001171933.1:c.251A>C NP_001165404.1:p.Asp84Ala
NM_001171934.1:c.251A>C NP_001165405.1:p.Asp84Ala
NM_022124.5:c.6971A>C NP_071407.4:p.Asp2324Ala
XM_006717940.2:c.7166A>C XP_006718003.1:p.Asp2389Ala
XM_006717942.2:c.7100A>C XP_006718005.1:p.Asp2367Ala
XM_011540039.1:c.7163A>C XP_011538341.1:p.Asp2388Ala
XM_011540040.1:c.7160A>C XP_011538342.1:p.Asp2387Ala
XM_011540041.1:c.7106A>C XP_011538343.1:p.Asp2369Ala
XM_011540042.1:c.7076A>C XP_011538344.1:p.Asp2359Ala
XM_011540043.1:c.7166A>C XP_011538345.1:p.Asp2389Ala
XM_011540044.1:c.7031A>C XP_011538346.1:p.Asp2344Ala
XM_011540045.1:c.7166A>C XP_011538347.1:p.Asp2389Ala
XM_011540046.1:c.6626A>C XP_011538348.1:p.Asp2209Ala
XM_011540047.1:c.5984A>C XP_011538349.1:p.Asp1995Ala
XM_011540052.1:c.3494A>C XP_011538354.1:p.Asp1165Ala
NM_022124.6:c.6971A>C MANE Select NP_071407.4:p.Asp2324Ala