Canonical Allele Identifier: CA377131550
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807647C>G , CM000672.2:g.71807647C>G GRCh38
NC_000010.10:g.73567404C>G , CM000672.1:g.73567404C>G GRCh37
NC_000010.9:g.73237410C>G NCBI36
NG_008835.1:g.415701C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8440C>G MANE Select ENSP00000224721.9:p.Pro2814Ala
ENST00000642965.1:c.2373C>G ENSP00000495222.1:n.2373C>G
ENST00000647092.1:c.2037C>G ENSP00000495176.1:n.2037C>G
ENST00000224721.10:c.8455C>G ENSP00000224721.8:p.Pro2819Ala
ENST00000398788.4:c.1720C>G ENSP00000381768.3:p.Pro574Ala
ENST00000475158.1:n.1976C>G
ENST00000619887.4:c.1720C>G ENSP00000478374.1:p.Pro574Ala
ENST00000622827.4:c.8440C>G ENSP00000483211.1:p.Pro2814Ala
NM_001171933.1:c.1720C>G NP_001165404.1:p.Pro574Ala
NM_001171934.1:c.1720C>G NP_001165405.1:p.Pro574Ala
NM_022124.5:c.8440C>G NP_071407.4:p.Pro2814Ala
XM_006717940.2:c.8635C>G XP_006718003.1:p.Pro2879Ala
XM_006717942.2:c.8569C>G XP_006718005.1:p.Pro2857Ala
XM_011540039.1:c.8632C>G XP_011538341.1:p.Pro2878Ala
XM_011540040.1:c.8629C>G XP_011538342.1:p.Pro2877Ala
XM_011540041.1:c.8575C>G XP_011538343.1:p.Pro2859Ala
XM_011540042.1:c.8545C>G XP_011538344.1:p.Pro2849Ala
XM_011540043.1:c.8635C>G XP_011538345.1:p.Pro2879Ala
XM_011540044.1:c.8500C>G XP_011538346.1:p.Pro2834Ala
XM_011540045.1:c.8635C>G XP_011538347.1:p.Pro2879Ala
XM_011540046.1:c.8095C>G XP_011538348.1:p.Pro2699Ala
XM_011540047.1:c.7453C>G XP_011538349.1:p.Pro2485Ala
XM_011540052.1:c.4963C>G XP_011538354.1:p.Pro1655Ala
NM_022124.6:c.8440C>G MANE Select NP_071407.4:p.Pro2814Ala