Canonical Allele Identifier: CA261787

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45988
• ClinVar RCV Id: RCV003473278 ; RCV003574706
• dbSNP Id: rs397517341
• gnomAD v4: 10-71785101-G-A
• MyVariant Identifiers: chr10:g.73544858G>A (hg19) ; chr10:g.71785101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71785101G>A , CM000672.2:g.71785101G>A	GRCh38
NC_000010.10:g.73544858G>A , CM000672.1:g.73544858G>A	GRCh37
NC_000010.9:g.73214864G>A	NCBI36
NG_008835.1:g.393155G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5712+1G>A MANE Select	ENSP00000224721.9:n.5712+1G>A
ENST00000224721.10:c.5727+1G>A	ENSP00000224721.8:n.5727+1G>A
ENST00000622827.4:c.5712+1G>A	ENSP00000483211.1:n.5712+1G>A
NM_022124.5:c.5712+1G>A	NP_071407.4:n.5712+1G>A
XM_006717940.2:c.5907+1G>A	XP_006718003.1:n.5907+1G>A
XM_006717942.2:c.5841+1G>A	XP_006718005.1:n.5841+1G>A
XM_011540039.1:c.5904+1G>A	XP_011538341.1:n.5904+1G>A
XM_011540040.1:c.5901+1G>A	XP_011538342.1:n.5901+1G>A
XM_011540041.1:c.5847+1G>A	XP_011538343.1:n.5847+1G>A
XM_011540042.1:c.5907+1G>A	XP_011538344.1:n.5907+1G>A
XM_011540043.1:c.5907+1G>A	XP_011538345.1:n.5907+1G>A
XM_011540044.1:c.5772+1G>A	XP_011538346.1:n.5772+1G>A
XM_011540045.1:c.5907+1G>A	XP_011538347.1:n.5907+1G>A
XM_011540046.1:c.5367+1G>A	XP_011538348.1:n.5367+1G>A
XM_011540047.1:c.4725+1G>A	XP_011538349.1:n.4725+1G>A
XM_011540048.1:c.5907+1G>A	XP_011538350.1:n.5907+1G>A
XM_011540049.1:c.5907+1G>A	XP_011538351.1:n.5907+1G>A
XM_011540050.1:c.5907+1G>A	XP_011538352.1:n.5907+1G>A
XM_011540051.1:c.5907+1G>A	XP_011538353.1:n.5907+1G>A
XM_011540052.1:c.2235+1G>A	XP_011538354.1:n.2235+1G>A
XM_011540053.1:c.5907+1G>A	XP_011538355.1:n.5907+1G>A
XR_945796.1:n.6150+1G>A
NM_022124.6:c.5712+1G>A MANE Select	NP_071407.4:n.5712+1G>A