Canonical Allele Identifier: CA377159364
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799553C>G , CM000672.2:g.71799553C>G GRCh38
NC_000010.10:g.73559310C>G , CM000672.1:g.73559310C>G GRCh37
NC_000010.9:g.73229316C>G NCBI36
NG_008835.1:g.407607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7286C>G MANE Select ENSP00000224721.9:p.Ala2429Gly
ENST00000642965.1:c.1219C>G ENSP00000495222.1:n.1219C>G
ENST00000647092.1:c.883C>G ENSP00000495176.1:n.883C>G
ENST00000224721.10:c.7301C>G ENSP00000224721.8:p.Ala2434Gly
ENST00000398788.4:c.566C>G ENSP00000381768.3:p.Ala189Gly
ENST00000475158.1:n.822C>G
ENST00000619887.4:c.566C>G ENSP00000478374.1:p.Ala189Gly
ENST00000622827.4:c.7286C>G ENSP00000483211.1:p.Ala2429Gly
NM_001171933.1:c.566C>G NP_001165404.1:p.Ala189Gly
NM_001171934.1:c.566C>G NP_001165405.1:p.Ala189Gly
NM_022124.5:c.7286C>G NP_071407.4:p.Ala2429Gly
XM_006717940.2:c.7481C>G XP_006718003.1:p.Ala2494Gly
XM_006717942.2:c.7415C>G XP_006718005.1:p.Ala2472Gly
XM_011540039.1:c.7478C>G XP_011538341.1:p.Ala2493Gly
XM_011540040.1:c.7475C>G XP_011538342.1:p.Ala2492Gly
XM_011540041.1:c.7421C>G XP_011538343.1:p.Ala2474Gly
XM_011540042.1:c.7391C>G XP_011538344.1:p.Ala2464Gly
XM_011540043.1:c.7481C>G XP_011538345.1:p.Ala2494Gly
XM_011540044.1:c.7346C>G XP_011538346.1:p.Ala2449Gly
XM_011540045.1:c.7481C>G XP_011538347.1:p.Ala2494Gly
XM_011540046.1:c.6941C>G XP_011538348.1:p.Ala2314Gly
XM_011540047.1:c.6299C>G XP_011538349.1:p.Ala2100Gly
XM_011540052.1:c.3809C>G XP_011538354.1:p.Ala1270Gly
NM_022124.6:c.7286C>G MANE Select NP_071407.4:p.Ala2429Gly