Canonical Allele Identifier: CA261805
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 46053
ClinVar RCV Id: RCV003660761
dbSNP Id: rs397517362

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71809878C>A , CM000672.2:g.71809878C>A GRCh38
NC_000010.10:g.73569635C>A , CM000672.1:g.73569635C>A GRCh37
NC_000010.9:g.73239641C>A NCBI36
NG_008835.1:g.417932C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8781C>A MANE Select ENSP00000224721.9:p.Tyr2927Ter
ENST00000642965.1:c.2714C>A ENSP00000495222.1:n.2714C>A
ENST00000647092.1:c.2378C>A ENSP00000495176.1:n.2378C>A
ENST00000224721.10:c.8796C>A ENSP00000224721.8:p.Tyr2932Ter
ENST00000398788.4:c.2061C>A ENSP00000381768.3:p.Tyr687Ter
ENST00000475158.1:n.2317C>A
ENST00000619887.4:c.2061C>A ENSP00000478374.1:p.Tyr687Ter
ENST00000622827.4:c.8781C>A ENSP00000483211.1:p.Tyr2927Ter
NM_001171933.1:c.2061C>A NP_001165404.1:p.Tyr687Ter
NM_001171934.1:c.2061C>A NP_001165405.1:p.Tyr687Ter
NM_022124.5:c.8781C>A NP_071407.4:p.Tyr2927Ter
XM_006717940.2:c.8976C>A XP_006718003.1:p.Tyr2992Ter
XM_006717942.2:c.8910C>A XP_006718005.1:p.Tyr2970Ter
XM_011540039.1:c.8973C>A XP_011538341.1:p.Tyr2991Ter
XM_011540040.1:c.8970C>A XP_011538342.1:p.Tyr2990Ter
XM_011540041.1:c.8916C>A XP_011538343.1:p.Tyr2972Ter
XM_011540042.1:c.8886C>A XP_011538344.1:p.Tyr2962Ter
XM_011540043.1:c.8976C>A XP_011538345.1:p.Tyr2992Ter
XM_011540044.1:c.8841C>A XP_011538346.1:p.Tyr2947Ter
XM_011540045.1:c.8976C>A XP_011538347.1:p.Tyr2992Ter
XM_011540046.1:c.8436C>A XP_011538348.1:p.Tyr2812Ter
XM_011540047.1:c.7794C>A XP_011538349.1:p.Tyr2598Ter
XM_011540052.1:c.5304C>A XP_011538354.1:p.Tyr1768Ter
NM_022124.6:c.8781C>A MANE Select NP_071407.4:p.Tyr2927Ter