Canonical Allele Identifier: CA16618983

Gene: CDH23

Linked Data

• ClinVar Variation Id: 422346
• ClinVar RCV Id: RCV000480087 ; RCV001839004
• dbSNP Id: rs1064795722
• MyVariant Identifiers: chr10:g.73559248G>A (hg19) ; chr10:g.71799491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799491G>A , CM000672.2:g.71799491G>A	GRCh38
NC_000010.10:g.73559248G>A , CM000672.1:g.73559248G>A	GRCh37
NC_000010.9:g.73229254G>A	NCBI36
NG_008835.1:g.407545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7225-1G>A MANE Select	ENSP00000224721.9:n.7225-1G>A
ENST00000642965.1:c.1158-1G>A	ENSP00000495222.1:n.1158-1G>A
ENST00000647092.1:c.822-1G>A	ENSP00000495176.1:n.822-1G>A
ENST00000224721.10:c.7240-1G>A	ENSP00000224721.8:n.7240-1G>A
ENST00000398788.4:c.505-1G>A	ENSP00000381768.3:n.505-1G>A
ENST00000475158.1:n.761-1G>A
ENST00000619887.4:c.505-1G>A	ENSP00000478374.1:n.505-1G>A
ENST00000622827.4:c.7225-1G>A	ENSP00000483211.1:n.7225-1G>A
NM_001171933.1:c.505-1G>A	NP_001165404.1:n.505-1G>A
NM_001171934.1:c.505-1G>A	NP_001165405.1:n.505-1G>A
NM_022124.5:c.7225-1G>A	NP_071407.4:n.7225-1G>A
XM_006717940.2:c.7420-1G>A	XP_006718003.1:n.7420-1G>A
XM_006717942.2:c.7354-1G>A	XP_006718005.1:n.7354-1G>A
XM_011540039.1:c.7417-1G>A	XP_011538341.1:n.7417-1G>A
XM_011540040.1:c.7414-1G>A	XP_011538342.1:n.7414-1G>A
XM_011540041.1:c.7360-1G>A	XP_011538343.1:n.7360-1G>A
XM_011540042.1:c.7330-1G>A	XP_011538344.1:n.7330-1G>A
XM_011540043.1:c.7420-1G>A	XP_011538345.1:n.7420-1G>A
XM_011540044.1:c.7285-1G>A	XP_011538346.1:n.7285-1G>A
XM_011540045.1:c.7420-1G>A	XP_011538347.1:n.7420-1G>A
XM_011540046.1:c.6880-1G>A	XP_011538348.1:n.6880-1G>A
XM_011540047.1:c.6238-1G>A	XP_011538349.1:n.6238-1G>A
XM_011540052.1:c.3748-1G>A	XP_011538354.1:n.3748-1G>A
NM_022124.6:c.7225-1G>A MANE Select	NP_071407.4:n.7225-1G>A