Canonical Allele Identifier: CA470061993

Gene: CDH23

Linked Data

• dbSNP Id: rs774774091
• gnomAD v2: 10-73558175-C-A
• gnomAD v4: 10-71798418-C-A
• MyVariant Identifiers: chr10:g.73558175C>A (hg19) ; chr10:g.71798418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798418C>A , CM000672.2:g.71798418C>A	GRCh38
NC_000010.10:g.73558175C>A , CM000672.1:g.73558175C>A	GRCh37
NC_000010.9:g.73228181C>A	NCBI36
NG_008835.1:g.406472C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6894C>A MANE Select	ENSP00000224721.9:p.Ile2298=
ENST00000642965.1:c.827C>A	ENSP00000495222.1:n.827C>A
ENST00000647092.1:c.491C>A	ENSP00000495176.1:n.491C>A
ENST00000224721.10:c.6909C>A	ENSP00000224721.8:p.Ile2303=
ENST00000398788.4:c.174C>A	ENSP00000381768.3:p.Ile58=
ENST00000475158.1:n.430C>A
ENST00000619887.4:c.174C>A	ENSP00000478374.1:p.Ile58=
ENST00000622827.4:c.6894C>A	ENSP00000483211.1:p.Ile2298=
NM_001171933.1:c.174C>A	NP_001165404.1:p.Ile58=
NM_001171934.1:c.174C>A	NP_001165405.1:p.Ile58=
NM_022124.5:c.6894C>A	NP_071407.4:p.Ile2298=
XM_006717940.2:c.7089C>A	XP_006718003.1:p.Ile2363=
XM_006717942.2:c.7023C>A	XP_006718005.1:p.Ile2341=
XM_011540039.1:c.7086C>A	XP_011538341.1:p.Ile2362=
XM_011540040.1:c.7083C>A	XP_011538342.1:p.Ile2361=
XM_011540041.1:c.7029C>A	XP_011538343.1:p.Ile2343=
XM_011540042.1:c.6999C>A	XP_011538344.1:p.Ile2333=
XM_011540043.1:c.7089C>A	XP_011538345.1:p.Ile2363=
XM_011540044.1:c.6954C>A	XP_011538346.1:p.Ile2318=
XM_011540045.1:c.7089C>A	XP_011538347.1:p.Ile2363=
XM_011540046.1:c.6549C>A	XP_011538348.1:p.Ile2183=
XM_011540047.1:c.5907C>A	XP_011538349.1:p.Ile1969=
XM_011540052.1:c.3417C>A	XP_011538354.1:p.Ile1139=
NM_022124.6:c.6894C>A MANE Select	NP_071407.4:p.Ile2298=