Canonical Allele Identifier: CA377159363

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1019876
• ClinVar RCV Id: RCV001319378
• dbSNP Id: rs1220364677
• gnomAD v2: 10-73559310-C-A
• gnomAD v4: 10-71799553-C-A
• MyVariant Identifiers: chr10:g.73559310C>A (hg19) ; chr10:g.71799553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799553C>A , CM000672.2:g.71799553C>A	GRCh38
NC_000010.10:g.73559310C>A , CM000672.1:g.73559310C>A	GRCh37
NC_000010.9:g.73229316C>A	NCBI36
NG_008835.1:g.407607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7286C>A MANE Select	ENSP00000224721.9:p.Ala2429Asp
ENST00000642965.1:c.1219C>A	ENSP00000495222.1:n.1219C>A
ENST00000647092.1:c.883C>A	ENSP00000495176.1:n.883C>A
ENST00000224721.10:c.7301C>A	ENSP00000224721.8:p.Ala2434Asp
ENST00000398788.4:c.566C>A	ENSP00000381768.3:p.Ala189Asp
ENST00000475158.1:n.822C>A
ENST00000619887.4:c.566C>A	ENSP00000478374.1:p.Ala189Asp
ENST00000622827.4:c.7286C>A	ENSP00000483211.1:p.Ala2429Asp
NM_001171933.1:c.566C>A	NP_001165404.1:p.Ala189Asp
NM_001171934.1:c.566C>A	NP_001165405.1:p.Ala189Asp
NM_022124.5:c.7286C>A	NP_071407.4:p.Ala2429Asp
XM_006717940.2:c.7481C>A	XP_006718003.1:p.Ala2494Asp
XM_006717942.2:c.7415C>A	XP_006718005.1:p.Ala2472Asp
XM_011540039.1:c.7478C>A	XP_011538341.1:p.Ala2493Asp
XM_011540040.1:c.7475C>A	XP_011538342.1:p.Ala2492Asp
XM_011540041.1:c.7421C>A	XP_011538343.1:p.Ala2474Asp
XM_011540042.1:c.7391C>A	XP_011538344.1:p.Ala2464Asp
XM_011540043.1:c.7481C>A	XP_011538345.1:p.Ala2494Asp
XM_011540044.1:c.7346C>A	XP_011538346.1:p.Ala2449Asp
XM_011540045.1:c.7481C>A	XP_011538347.1:p.Ala2494Asp
XM_011540046.1:c.6941C>A	XP_011538348.1:p.Ala2314Asp
XM_011540047.1:c.6299C>A	XP_011538349.1:p.Ala2100Asp
XM_011540052.1:c.3809C>A	XP_011538354.1:p.Ala1270Asp
NM_022124.6:c.7286C>A MANE Select	NP_071407.4:p.Ala2429Asp