Canonical Allele Identifier: CA137431

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45948
• ClinVar RCV Id: RCV000039182 ; RCV001246417 ; RCV001826571
• dbSNP Id: rs375641853
• ExAC: 10:73500588 T / A
• gnomAD v2: 10-73500588-T-A
• gnomAD v3: 10-71740831-T-A
• gnomAD v4: 10-71740831-T-A
• MyVariant Identifiers: chr10:g.73500588T>A (hg19) ; chr10:g.71740831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740831T>A , CM000672.2:g.71740831T>A	GRCh38
NC_000010.10:g.73500588T>A , CM000672.1:g.73500588T>A	GRCh37
NC_000010.9:g.73170594T>A	NCBI36
NG_008835.1:g.348885T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4498T>A MANE Select	ENSP00000224721.9:p.Ser1500Thr
ENST00000224721.10:c.4513T>A	ENSP00000224721.8:p.Ser1505Thr
ENST00000398792.3:n.1187T>A
ENST00000622827.4:c.4498T>A	ENSP00000483211.1:p.Ser1500Thr
NM_022124.5:c.4498T>A	NP_071407.4:p.Ser1500Thr
XM_006717940.2:c.4693T>A	XP_006718003.1:p.Ser1565Thr
XM_006717942.2:c.4627T>A	XP_006718005.1:p.Ser1543Thr
XM_011540039.1:c.4690T>A	XP_011538341.1:p.Ser1564Thr
XM_011540040.1:c.4687T>A	XP_011538342.1:p.Ser1563Thr
XM_011540041.1:c.4633T>A	XP_011538343.1:p.Ser1545Thr
XM_011540042.1:c.4693T>A	XP_011538344.1:p.Ser1565Thr
XM_011540043.1:c.4693T>A	XP_011538345.1:p.Ser1565Thr
XM_011540044.1:c.4558T>A	XP_011538346.1:p.Ser1520Thr
XM_011540045.1:c.4693T>A	XP_011538347.1:p.Ser1565Thr
XM_011540046.1:c.4153T>A	XP_011538348.1:p.Ser1385Thr
XM_011540047.1:c.3511T>A	XP_011538349.1:p.Ser1171Thr
XM_011540048.1:c.4693T>A	XP_011538350.1:p.Ser1565Thr
XM_011540049.1:c.4693T>A	XP_011538351.1:p.Ser1565Thr
XM_011540050.1:c.4693T>A	XP_011538352.1:p.Ser1565Thr
XM_011540051.1:c.4693T>A	XP_011538353.1:p.Ser1565Thr
XM_011540052.1:c.1021T>A	XP_011538354.1:p.Ser341Thr
XM_011540053.1:c.4693T>A	XP_011538355.1:p.Ser1565Thr
XR_945796.1:n.4936T>A
NM_022124.6:c.4498T>A MANE Select	NP_071407.4:p.Ser1500Thr