Canonical Allele Identifier: CA137454

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45961
• ClinVar RCV Id: RCV000039195 ; RCV000265777 ; RCV000365175 ; RCV000843702 ; RCV001826573
• dbSNP Id: rs56043301
• ExAC: 10:73537617 G / A
• gnomAD v2: 10-73537617-G-A
• gnomAD v3: 10-71777860-G-A
• gnomAD v4: 10-71777860-G-A
• MyVariant Identifiers: chr10:g.73537617G>A (hg19) ; chr10:g.71777860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71777860G>A , CM000672.2:g.71777860G>A	GRCh38
NC_000010.10:g.73537617G>A , CM000672.1:g.73537617G>A	GRCh37
NC_000010.9:g.73207623G>A	NCBI36
NG_008835.1:g.385914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5026G>A MANE Select	ENSP00000224721.9:p.Ala1676Thr
ENST00000224721.10:c.5041G>A	ENSP00000224721.8:p.Ala1681Thr
ENST00000622827.4:c.5026G>A	ENSP00000483211.1:p.Ala1676Thr
NM_022124.5:c.5026G>A	NP_071407.4:p.Ala1676Thr
XM_006717940.2:c.5221G>A	XP_006718003.1:p.Ala1741Thr
XM_006717942.2:c.5155G>A	XP_006718005.1:p.Ala1719Thr
XM_011540039.1:c.5218G>A	XP_011538341.1:p.Ala1740Thr
XM_011540040.1:c.5215G>A	XP_011538342.1:p.Ala1739Thr
XM_011540041.1:c.5161G>A	XP_011538343.1:p.Ala1721Thr
XM_011540042.1:c.5221G>A	XP_011538344.1:p.Ala1741Thr
XM_011540043.1:c.5221G>A	XP_011538345.1:p.Ala1741Thr
XM_011540044.1:c.5086G>A	XP_011538346.1:p.Ala1696Thr
XM_011540045.1:c.5221G>A	XP_011538347.1:p.Ala1741Thr
XM_011540046.1:c.4681G>A	XP_011538348.1:p.Ala1561Thr
XM_011540047.1:c.4039G>A	XP_011538349.1:p.Ala1347Thr
XM_011540048.1:c.5221G>A	XP_011538350.1:p.Ala1741Thr
XM_011540049.1:c.5221G>A	XP_011538351.1:p.Ala1741Thr
XM_011540050.1:c.5221G>A	XP_011538352.1:p.Ala1741Thr
XM_011540051.1:c.5221G>A	XP_011538353.1:p.Ala1741Thr
XM_011540052.1:c.1549G>A	XP_011538354.1:p.Ala517Thr
XM_011540053.1:c.5221G>A	XP_011538355.1:p.Ala1741Thr
XR_945796.1:n.5464G>A
NM_022124.6:c.5026G>A MANE Select	NP_071407.4:p.Ala1676Thr