Canonical Allele Identifier: CA377131528
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807636G>T , CM000672.2:g.71807636G>T GRCh38
NC_000010.10:g.73567393G>T , CM000672.1:g.73567393G>T GRCh37
NC_000010.9:g.73237399G>T NCBI36
NG_008835.1:g.415690G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.8429G>T MANE Select ENSP00000224721.9:p.Ser2810Ile
ENST00000642965.1:c.2362G>T ENSP00000495222.1:n.2362G>T
ENST00000647092.1:c.2026G>T ENSP00000495176.1:n.2026G>T
ENST00000224721.10:c.8444G>T ENSP00000224721.8:p.Ser2815Ile
ENST00000398788.4:c.1709G>T ENSP00000381768.3:p.Ser570Ile
ENST00000475158.1:n.1965G>T
ENST00000619887.4:c.1709G>T ENSP00000478374.1:p.Ser570Ile
ENST00000622827.4:c.8429G>T ENSP00000483211.1:p.Ser2810Ile
NM_001171933.1:c.1709G>T NP_001165404.1:p.Ser570Ile
NM_001171934.1:c.1709G>T NP_001165405.1:p.Ser570Ile
NM_022124.5:c.8429G>T NP_071407.4:p.Ser2810Ile
XM_006717940.2:c.8624G>T XP_006718003.1:p.Ser2875Ile
XM_006717942.2:c.8558G>T XP_006718005.1:p.Ser2853Ile
XM_011540039.1:c.8621G>T XP_011538341.1:p.Ser2874Ile
XM_011540040.1:c.8618G>T XP_011538342.1:p.Ser2873Ile
XM_011540041.1:c.8564G>T XP_011538343.1:p.Ser2855Ile
XM_011540042.1:c.8534G>T XP_011538344.1:p.Ser2845Ile
XM_011540043.1:c.8624G>T XP_011538345.1:p.Ser2875Ile
XM_011540044.1:c.8489G>T XP_011538346.1:p.Ser2830Ile
XM_011540045.1:c.8624G>T XP_011538347.1:p.Ser2875Ile
XM_011540046.1:c.8084G>T XP_011538348.1:p.Ser2695Ile
XM_011540047.1:c.7442G>T XP_011538349.1:p.Ser2481Ile
XM_011540052.1:c.4952G>T XP_011538354.1:p.Ser1651Ile
NM_022124.6:c.8429G>T MANE Select NP_071407.4:p.Ser2810Ile