Canonical Allele Identifier: CA261797
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 46029
dbSNP Id: rs370983472

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799629G>A , CM000672.2:g.71799629G>A GRCh38
NC_000010.10:g.73559386G>A , CM000672.1:g.73559386G>A GRCh37
NC_000010.9:g.73229392G>A NCBI36
NG_008835.1:g.407683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7362G>A MANE Select ENSP00000224721.9:p.Thr2454=
ENST00000642965.1:c.1295G>A ENSP00000495222.1:n.1295G>A
ENST00000647092.1:c.959G>A ENSP00000495176.1:n.959G>A
ENST00000224721.10:c.7377G>A ENSP00000224721.8:p.Thr2459=
ENST00000398788.4:c.642G>A ENSP00000381768.3:p.Thr214=
ENST00000475158.1:n.898G>A
ENST00000619887.4:c.642G>A ENSP00000478374.1:p.Thr214=
ENST00000622827.4:c.7362G>A ENSP00000483211.1:p.Thr2454=
NM_001171933.1:c.642G>A NP_001165404.1:p.Thr214=
NM_001171934.1:c.642G>A NP_001165405.1:p.Thr214=
NM_022124.5:c.7362G>A NP_071407.4:p.Thr2454=
XM_006717940.2:c.7557G>A XP_006718003.1:p.Thr2519=
XM_006717942.2:c.7491G>A XP_006718005.1:p.Thr2497=
XM_011540039.1:c.7554G>A XP_011538341.1:p.Thr2518=
XM_011540040.1:c.7551G>A XP_011538342.1:p.Thr2517=
XM_011540041.1:c.7497G>A XP_011538343.1:p.Thr2499=
XM_011540042.1:c.7467G>A XP_011538344.1:p.Thr2489=
XM_011540043.1:c.7557G>A XP_011538345.1:p.Thr2519=
XM_011540044.1:c.7422G>A XP_011538346.1:p.Thr2474=
XM_011540045.1:c.7557G>A XP_011538347.1:p.Thr2519=
XM_011540046.1:c.7017G>A XP_011538348.1:p.Thr2339=
XM_011540047.1:c.6375G>A XP_011538349.1:p.Thr2125=
XM_011540052.1:c.3885G>A XP_011538354.1:p.Thr1295=
NM_022124.6:c.7362G>A MANE Select NP_071407.4:p.Thr2454=