Canonical Allele Identifier: CA377159510
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 446449
ClinVar RCV Id: RCV000515741
dbSNP Id: rs1264310782
gnomAD v2: 10-73559336-G-A
gnomAD v3: 10-71799579-G-A
gnomAD v4: 10-71799579-G-A
MyVariant Identifiers: chr10:g.73559336G>A (hg19) chr10:g.71799579G>A (hg38)
PubMed: PMID:25963016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799579G>A , CM000672.2:g.71799579G>A GRCh38
NC_000010.10:g.73559336G>A , CM000672.1:g.73559336G>A GRCh37
NC_000010.9:g.73229342G>A NCBI36
NG_008835.1:g.407633G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7312G>A MANE Select ENSP00000224721.9:p.Glu2438Lys
ENST00000642965.1:c.1245G>A ENSP00000495222.1:n.1245G>A
ENST00000647092.1:c.909G>A ENSP00000495176.1:n.909G>A
ENST00000224721.10:c.7327G>A ENSP00000224721.8:p.Glu2443Lys
ENST00000398788.4:c.592G>A ENSP00000381768.3:p.Glu198Lys
ENST00000475158.1:n.848G>A
ENST00000619887.4:c.592G>A ENSP00000478374.1:p.Glu198Lys
ENST00000622827.4:c.7312G>A ENSP00000483211.1:p.Glu2438Lys
NM_001171933.1:c.592G>A NP_001165404.1:p.Glu198Lys
NM_001171934.1:c.592G>A NP_001165405.1:p.Glu198Lys
NM_022124.5:c.7312G>A NP_071407.4:p.Glu2438Lys
XM_006717940.2:c.7507G>A XP_006718003.1:p.Glu2503Lys
XM_006717942.2:c.7441G>A XP_006718005.1:p.Glu2481Lys
XM_011540039.1:c.7504G>A XP_011538341.1:p.Glu2502Lys
XM_011540040.1:c.7501G>A XP_011538342.1:p.Glu2501Lys
XM_011540041.1:c.7447G>A XP_011538343.1:p.Glu2483Lys
XM_011540042.1:c.7417G>A XP_011538344.1:p.Glu2473Lys
XM_011540043.1:c.7507G>A XP_011538345.1:p.Glu2503Lys
XM_011540044.1:c.7372G>A XP_011538346.1:p.Glu2458Lys
XM_011540045.1:c.7507G>A XP_011538347.1:p.Glu2503Lys
XM_011540046.1:c.6967G>A XP_011538348.1:p.Glu2323Lys
XM_011540047.1:c.6325G>A XP_011538349.1:p.Glu2109Lys
XM_011540052.1:c.3835G>A XP_011538354.1:p.Glu1279Lys
NM_022124.6:c.7312G>A MANE Select NP_071407.4:p.Glu2438Lys
Search 100 bp 5'
Search 100 bp 3'