Canonical Allele Identifier: CA377138377
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71815103T>G , CM000672.2:g.71815103T>G GRCh38
NC_000010.10:g.73574860T>G , CM000672.1:g.73574860T>G GRCh37
NC_000010.9:g.73244866T>G NCBI36
NG_008835.1:g.423157T>G
NG_009301.1:g.41223A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.9890T>G MANE Select ENSP00000224721.9:p.Leu3297Arg
ENST00000642965.1:c.3823T>G ENSP00000495222.1:n.3823T>G
ENST00000647092.1:c.3382T>G ENSP00000495176.1:n.3382T>G
ENST00000224721.10:c.9905T>G ENSP00000224721.8:p.Leu3302Arg
ENST00000398788.4:c.3170T>G ENSP00000381768.3:p.Leu1057Arg
ENST00000475158.1:n.3321T>G
ENST00000619887.4:c.3065T>G ENSP00000478374.1:p.Leu1022Arg
ENST00000622827.4:c.9890T>G ENSP00000483211.1:p.Leu3297Arg
NM_001171933.1:c.3170T>G NP_001165404.1:p.Leu1057Arg
NM_001171934.1:c.3065T>G NP_001165405.1:p.Leu1022Arg
NM_001171935.1:c.581T>G NP_001165406.1:p.Leu194Arg
NM_001171936.1:c.476T>G NP_001165407.1:p.Leu159Arg
NM_022124.5:c.9890T>G NP_071407.4:p.Leu3297Arg
XM_006717940.2:c.10085T>G XP_006718003.1:p.Leu3362Arg
XM_006717942.2:c.10019T>G XP_006718005.1:p.Leu3340Arg
XM_011540039.1:c.10082T>G XP_011538341.1:p.Leu3361Arg
XM_011540040.1:c.10079T>G XP_011538342.1:p.Leu3360Arg
XM_011540041.1:c.10025T>G XP_011538343.1:p.Leu3342Arg
XM_011540042.1:c.9995T>G XP_011538344.1:p.Leu3332Arg
XM_011540043.1:c.9980T>G XP_011538345.1:p.Leu3327Arg
XM_011540044.1:c.9950T>G XP_011538346.1:p.Leu3317Arg
XM_011540046.1:c.9545T>G XP_011538348.1:p.Leu3182Arg
XM_011540047.1:c.8903T>G XP_011538349.1:p.Leu2968Arg
XM_011540052.1:c.6413T>G XP_011538354.1:p.Leu2138Arg
NM_022124.6:c.9890T>G MANE Select NP_071407.4:p.Leu3297Arg