Canonical Allele Identifier: CA377160656

Gene: CDH23

Linked Data

• dbSNP Id: rs1420553441
• gnomAD v2: 10-73562742-G-A
• gnomAD v3: 10-71802985-G-A
• gnomAD v4: 10-71802985-G-A
• MyVariant Identifiers: chr10:g.73562742G>A (hg19) ; chr10:g.71802985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71802985G>A , CM000672.2:g.71802985G>A	GRCh38
NC_000010.10:g.73562742G>A , CM000672.1:g.73562742G>A	GRCh37
NC_000010.9:g.73232748G>A	NCBI36
NG_008835.1:g.411039G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7570G>A MANE Select	ENSP00000224721.9:p.Ala2524Thr
ENST00000642965.1:c.1503G>A	ENSP00000495222.1:n.1503G>A
ENST00000647092.1:c.1167G>A	ENSP00000495176.1:n.1167G>A
ENST00000224721.10:c.7585G>A	ENSP00000224721.8:p.Ala2529Thr
ENST00000398788.4:c.850G>A	ENSP00000381768.3:p.Ala284Thr
ENST00000475158.1:n.1106G>A
ENST00000619887.4:c.850G>A	ENSP00000478374.1:p.Ala284Thr
ENST00000622827.4:c.7570G>A	ENSP00000483211.1:p.Ala2524Thr
NM_001171933.1:c.850G>A	NP_001165404.1:p.Ala284Thr
NM_001171934.1:c.850G>A	NP_001165405.1:p.Ala284Thr
NM_022124.5:c.7570G>A	NP_071407.4:p.Ala2524Thr
XM_006717940.2:c.7765G>A	XP_006718003.1:p.Ala2589Thr
XM_006717942.2:c.7699G>A	XP_006718005.1:p.Ala2567Thr
XM_011540039.1:c.7762G>A	XP_011538341.1:p.Ala2588Thr
XM_011540040.1:c.7759G>A	XP_011538342.1:p.Ala2587Thr
XM_011540041.1:c.7705G>A	XP_011538343.1:p.Ala2569Thr
XM_011540042.1:c.7675G>A	XP_011538344.1:p.Ala2559Thr
XM_011540043.1:c.7765G>A	XP_011538345.1:p.Ala2589Thr
XM_011540044.1:c.7630G>A	XP_011538346.1:p.Ala2544Thr
XM_011540045.1:c.7765G>A	XP_011538347.1:p.Ala2589Thr
XM_011540046.1:c.7225G>A	XP_011538348.1:p.Ala2409Thr
XM_011540047.1:c.6583G>A	XP_011538349.1:p.Ala2195Thr
XM_011540052.1:c.4093G>A	XP_011538354.1:p.Ala1365Thr
NM_022124.6:c.7570G>A MANE Select	NP_071407.4:p.Ala2524Thr