Canonical Allele Identifier: CA377133159
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71809880T>C , CM000672.2:g.71809880T>C GRCh38
NC_000010.10:g.73569637T>C , CM000672.1:g.73569637T>C GRCh37
NC_000010.9:g.73239643T>C NCBI36
NG_008835.1:g.417934T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8783T>C MANE Select ENSP00000224721.9:p.Phe2928Ser
ENST00000642965.1:c.2716T>C ENSP00000495222.1:n.2716T>C
ENST00000647092.1:c.2380T>C ENSP00000495176.1:n.2380T>C
ENST00000224721.10:c.8798T>C ENSP00000224721.8:p.Phe2933Ser
ENST00000398788.4:c.2063T>C ENSP00000381768.3:p.Phe688Ser
ENST00000475158.1:n.2319T>C
ENST00000619887.4:c.2063T>C ENSP00000478374.1:p.Phe688Ser
ENST00000622827.4:c.8783T>C ENSP00000483211.1:p.Phe2928Ser
NM_001171933.1:c.2063T>C NP_001165404.1:p.Phe688Ser
NM_001171934.1:c.2063T>C NP_001165405.1:p.Phe688Ser
NM_022124.5:c.8783T>C NP_071407.4:p.Phe2928Ser
XM_006717940.2:c.8978T>C XP_006718003.1:p.Phe2993Ser
XM_006717942.2:c.8912T>C XP_006718005.1:p.Phe2971Ser
XM_011540039.1:c.8975T>C XP_011538341.1:p.Phe2992Ser
XM_011540040.1:c.8972T>C XP_011538342.1:p.Phe2991Ser
XM_011540041.1:c.8918T>C XP_011538343.1:p.Phe2973Ser
XM_011540042.1:c.8888T>C XP_011538344.1:p.Phe2963Ser
XM_011540043.1:c.8978T>C XP_011538345.1:p.Phe2993Ser
XM_011540044.1:c.8843T>C XP_011538346.1:p.Phe2948Ser
XM_011540045.1:c.8978T>C XP_011538347.1:p.Phe2993Ser
XM_011540046.1:c.8438T>C XP_011538348.1:p.Phe2813Ser
XM_011540047.1:c.7796T>C XP_011538349.1:p.Phe2599Ser
XM_011540052.1:c.5306T>C XP_011538354.1:p.Phe1769Ser
NM_022124.6:c.8783T>C MANE Select NP_071407.4:p.Phe2928Ser