Canonical Allele Identifier: CA5546541
Community Standard Title: NM_022124.6(CDH23):c.8065-5C>A
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71806163C>A , CM000672.2:g.71806163C>A GRCh38
NC_000010.10:g.73565920C>A , CM000672.1:g.73565920C>A GRCh37
NC_000010.9:g.73235926C>A NCBI36
NG_008835.1:g.414217C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.8065-5C>A MANE Select NP_071407.4:n.8065-5C>A
ENST00000224721.12:c.8065-5C>A MANE Select ENSP00000224721.9:n.8065-5C>A
NM_001171933.1:c.1345-5C>A NP_001165404.1:n.1345-5C>A
NM_001171934.1:c.1345-5C>A NP_001165405.1:n.1345-5C>A
NM_022124.5:c.8065-5C>A NP_071407.4:n.8065-5C>A
ENST00000224721.10:c.8080-5C>A ENSP00000224721.8:n.8080-5C>A
ENST00000398788.4:c.1345-5C>A ENSP00000381768.3:n.1345-5C>A
ENST00000475158.1:n.1601-5C>A
ENST00000619887.4:c.1345-5C>A ENSP00000478374.1:n.1345-5C>A
ENST00000622827.4:c.8065-5C>A ENSP00000483211.1:n.8065-5C>A
ENST00000642965.1:c.1998-5C>A ENSP00000495222.1:n.1998-5C>A
ENST00000647092.1:c.1662-5C>A ENSP00000495176.1:n.1662-5C>A
XM_006717940.2:c.8260-5C>A XP_006718003.1:n.8260-5C>A
XM_006717942.2:c.8194-5C>A XP_006718005.1:n.8194-5C>A
XM_011540039.1:c.8257-5C>A XP_011538341.1:n.8257-5C>A
XM_011540040.1:c.8254-5C>A XP_011538342.1:n.8254-5C>A
XM_011540041.1:c.8200-5C>A XP_011538343.1:n.8200-5C>A
XM_011540042.1:c.8170-5C>A XP_011538344.1:n.8170-5C>A
XM_011540043.1:c.8260-5C>A XP_011538345.1:n.8260-5C>A
XM_011540044.1:c.8125-5C>A XP_011538346.1:n.8125-5C>A
XM_011540045.1:c.8260-5C>A XP_011538347.1:n.8260-5C>A
XM_011540046.1:c.7720-5C>A XP_011538348.1:n.7720-5C>A
XM_011540047.1:c.7078-5C>A XP_011538349.1:n.7078-5C>A
XM_011540052.1:c.4588-5C>A XP_011538354.1:n.4588-5C>A