Canonical Allele Identifier: CA5546257

Gene: CDH23

Linked Data

• ClinVar Variation Id: 517331
• ClinVar RCV Id: RCV000615673 ; RCV001102760 ; RCV001102761 ; RCV003660819
• dbSNP Id: rs371872394
• ExAC: 10:73558853 G / A
• gnomAD v2: 10-73558853-G-A
• gnomAD v3: 10-71799096-G-A
• gnomAD v4: 10-71799096-G-A
• MyVariant Identifiers: chr10:g.73558853G>A (hg19) ; chr10:g.71799096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799096G>A , CM000672.2:g.71799096G>A	GRCh38
NC_000010.10:g.73558853G>A , CM000672.1:g.73558853G>A	GRCh37
NC_000010.9:g.73228859G>A	NCBI36
NG_008835.1:g.407150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7055-15G>A MANE Select	ENSP00000224721.9:n.7055-15G>A
ENST00000642965.1:c.988-15G>A	ENSP00000495222.1:n.988-15G>A
ENST00000647092.1:c.652-15G>A	ENSP00000495176.1:n.652-15G>A
ENST00000224721.10:c.7070-15G>A	ENSP00000224721.8:n.7070-15G>A
ENST00000398788.4:c.335-15G>A	ENSP00000381768.3:n.335-15G>A
ENST00000475158.1:n.591-15G>A
ENST00000619887.4:c.335-15G>A	ENSP00000478374.1:n.335-15G>A
ENST00000622827.4:c.7055-15G>A	ENSP00000483211.1:n.7055-15G>A
NM_001171933.1:c.335-15G>A	NP_001165404.1:n.335-15G>A
NM_001171934.1:c.335-15G>A	NP_001165405.1:n.335-15G>A
NM_022124.5:c.7055-15G>A	NP_071407.4:n.7055-15G>A
XM_006717940.2:c.7250-15G>A	XP_006718003.1:n.7250-15G>A
XM_006717942.2:c.7184-15G>A	XP_006718005.1:n.7184-15G>A
XM_011540039.1:c.7247-15G>A	XP_011538341.1:n.7247-15G>A
XM_011540040.1:c.7244-15G>A	XP_011538342.1:n.7244-15G>A
XM_011540041.1:c.7190-15G>A	XP_011538343.1:n.7190-15G>A
XM_011540042.1:c.7160-15G>A	XP_011538344.1:n.7160-15G>A
XM_011540043.1:c.7250-15G>A	XP_011538345.1:n.7250-15G>A
XM_011540044.1:c.7115-15G>A	XP_011538346.1:n.7115-15G>A
XM_011540045.1:c.7250-15G>A	XP_011538347.1:n.7250-15G>A
XM_011540046.1:c.6710-15G>A	XP_011538348.1:n.6710-15G>A
XM_011540047.1:c.6068-15G>A	XP_011538349.1:n.6068-15G>A
XM_011540052.1:c.3578-15G>A	XP_011538354.1:n.3578-15G>A
NM_022124.6:c.7055-15G>A MANE Select	NP_071407.4:n.7055-15G>A