Canonical Allele Identifier: CA377158121

Gene: CDH23

Linked Data

• dbSNP Id: rs1264001448
• gnomAD v2: 10-73558258-G-A
• gnomAD v3: 10-71798501-G-A
• gnomAD v4: 10-71798501-G-A
• MyVariant Identifiers: chr10:g.73558258G>A (hg19) ; chr10:g.71798501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798501G>A , CM000672.2:g.71798501G>A	GRCh38
NC_000010.10:g.73558258G>A , CM000672.1:g.73558258G>A	GRCh37
NC_000010.9:g.73228264G>A	NCBI36
NG_008835.1:g.406555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6977G>A MANE Select	ENSP00000224721.9:p.Gly2326Asp
ENST00000642965.1:c.910G>A	ENSP00000495222.1:n.910G>A
ENST00000647092.1:c.574G>A	ENSP00000495176.1:n.574G>A
ENST00000224721.10:c.6992G>A	ENSP00000224721.8:p.Gly2331Asp
ENST00000398788.4:c.257G>A	ENSP00000381768.3:p.Gly86Asp
ENST00000475158.1:n.513G>A
ENST00000619887.4:c.257G>A	ENSP00000478374.1:p.Gly86Asp
ENST00000622827.4:c.6977G>A	ENSP00000483211.1:p.Gly2326Asp
NM_001171933.1:c.257G>A	NP_001165404.1:p.Gly86Asp
NM_001171934.1:c.257G>A	NP_001165405.1:p.Gly86Asp
NM_022124.5:c.6977G>A	NP_071407.4:p.Gly2326Asp
XM_006717940.2:c.7172G>A	XP_006718003.1:p.Gly2391Asp
XM_006717942.2:c.7106G>A	XP_006718005.1:p.Gly2369Asp
XM_011540039.1:c.7169G>A	XP_011538341.1:p.Gly2390Asp
XM_011540040.1:c.7166G>A	XP_011538342.1:p.Gly2389Asp
XM_011540041.1:c.7112G>A	XP_011538343.1:p.Gly2371Asp
XM_011540042.1:c.7082G>A	XP_011538344.1:p.Gly2361Asp
XM_011540043.1:c.7172G>A	XP_011538345.1:p.Gly2391Asp
XM_011540044.1:c.7037G>A	XP_011538346.1:p.Gly2346Asp
XM_011540045.1:c.7172G>A	XP_011538347.1:p.Gly2391Asp
XM_011540046.1:c.6632G>A	XP_011538348.1:p.Gly2211Asp
XM_011540047.1:c.5990G>A	XP_011538349.1:p.Gly1997Asp
XM_011540052.1:c.3500G>A	XP_011538354.1:p.Gly1167Asp
NM_022124.6:c.6977G>A MANE Select	NP_071407.4:p.Gly2326Asp