Canonical Allele Identifier: CA377131548
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs745880712

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807645C>A , CM000672.2:g.71807645C>A GRCh38
NC_000010.10:g.73567402C>A , CM000672.1:g.73567402C>A GRCh37
NC_000010.9:g.73237408C>A NCBI36
NG_008835.1:g.415699C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8438C>A MANE Select ENSP00000224721.9:p.Pro2813His
ENST00000642965.1:c.2371C>A ENSP00000495222.1:n.2371C>A
ENST00000647092.1:c.2035C>A ENSP00000495176.1:n.2035C>A
ENST00000224721.10:c.8453C>A ENSP00000224721.8:p.Pro2818His
ENST00000398788.4:c.1718C>A ENSP00000381768.3:p.Pro573His
ENST00000475158.1:n.1974C>A
ENST00000619887.4:c.1718C>A ENSP00000478374.1:p.Pro573His
ENST00000622827.4:c.8438C>A ENSP00000483211.1:p.Pro2813His
NM_001171933.1:c.1718C>A NP_001165404.1:p.Pro573His
NM_001171934.1:c.1718C>A NP_001165405.1:p.Pro573His
NM_022124.5:c.8438C>A NP_071407.4:p.Pro2813His
XM_006717940.2:c.8633C>A XP_006718003.1:p.Pro2878His
XM_006717942.2:c.8567C>A XP_006718005.1:p.Pro2856His
XM_011540039.1:c.8630C>A XP_011538341.1:p.Pro2877His
XM_011540040.1:c.8627C>A XP_011538342.1:p.Pro2876His
XM_011540041.1:c.8573C>A XP_011538343.1:p.Pro2858His
XM_011540042.1:c.8543C>A XP_011538344.1:p.Pro2848His
XM_011540043.1:c.8633C>A XP_011538345.1:p.Pro2878His
XM_011540044.1:c.8498C>A XP_011538346.1:p.Pro2833His
XM_011540045.1:c.8633C>A XP_011538347.1:p.Pro2878His
XM_011540046.1:c.8093C>A XP_011538348.1:p.Pro2698His
XM_011540047.1:c.7451C>A XP_011538349.1:p.Pro2484His
XM_011540052.1:c.4961C>A XP_011538354.1:p.Pro1654His
NM_022124.6:c.8438C>A MANE Select NP_071407.4:p.Pro2813His