Canonical Allele Identifier: CA377157747
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798392A>G , CM000672.2:g.71798392A>G GRCh38
NC_000010.10:g.73558149A>G , CM000672.1:g.73558149A>G GRCh37
NC_000010.9:g.73228155A>G NCBI36
NG_008835.1:g.406446A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6868A>G MANE Select ENSP00000224721.9:p.Thr2290Ala
ENST00000642965.1:c.801A>G ENSP00000495222.1:n.801A>G
ENST00000647092.1:c.465A>G ENSP00000495176.1:n.465A>G
ENST00000224721.10:c.6883A>G ENSP00000224721.8:p.Thr2295Ala
ENST00000398788.4:c.148A>G ENSP00000381768.3:p.Thr50Ala
ENST00000475158.1:n.404A>G
ENST00000619887.4:c.148A>G ENSP00000478374.1:p.Thr50Ala
ENST00000622827.4:c.6868A>G ENSP00000483211.1:p.Thr2290Ala
NM_001171933.1:c.148A>G NP_001165404.1:p.Thr50Ala
NM_001171934.1:c.148A>G NP_001165405.1:p.Thr50Ala
NM_022124.5:c.6868A>G NP_071407.4:p.Thr2290Ala
XM_006717940.2:c.7063A>G XP_006718003.1:p.Thr2355Ala
XM_006717942.2:c.6997A>G XP_006718005.1:p.Thr2333Ala
XM_011540039.1:c.7060A>G XP_011538341.1:p.Thr2354Ala
XM_011540040.1:c.7057A>G XP_011538342.1:p.Thr2353Ala
XM_011540041.1:c.7003A>G XP_011538343.1:p.Thr2335Ala
XM_011540042.1:c.6973A>G XP_011538344.1:p.Thr2325Ala
XM_011540043.1:c.7063A>G XP_011538345.1:p.Thr2355Ala
XM_011540044.1:c.6928A>G XP_011538346.1:p.Thr2310Ala
XM_011540045.1:c.7063A>G XP_011538347.1:p.Thr2355Ala
XM_011540046.1:c.6523A>G XP_011538348.1:p.Thr2175Ala
XM_011540047.1:c.5881A>G XP_011538349.1:p.Thr1961Ala
XM_011540052.1:c.3391A>G XP_011538354.1:p.Thr1131Ala
NM_022124.6:c.6868A>G MANE Select NP_071407.4:p.Thr2290Ala