Canonical Allele Identifier: CA137450

Gene: CDH23

Linked Data

• ClinVar Variation Id: 45959
• ClinVar RCV Id: RCV000039193 ; RCV001039006 ; RCV001273551
• dbSNP Id: rs397517333
• ExAC: 10:73537600 T / A
• gnomAD v2: 10-73537600-T-A
• gnomAD v4: 10-71777843-T-A
• MyVariant Identifiers: chr10:g.73537600T>A (hg19) ; chr10:g.71777843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71777843T>A , CM000672.2:g.71777843T>A	GRCh38
NC_000010.10:g.73537600T>A , CM000672.1:g.73537600T>A	GRCh37
NC_000010.9:g.73207606T>A	NCBI36
NG_008835.1:g.385897T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5009T>A MANE Select	ENSP00000224721.9:p.Val1670Asp
ENST00000224721.10:c.5024T>A	ENSP00000224721.8:p.Val1675Asp
ENST00000622827.4:c.5009T>A	ENSP00000483211.1:p.Val1670Asp
NM_022124.5:c.5009T>A	NP_071407.4:p.Val1670Asp
XM_006717940.2:c.5204T>A	XP_006718003.1:p.Val1735Asp
XM_006717942.2:c.5138T>A	XP_006718005.1:p.Val1713Asp
XM_011540039.1:c.5201T>A	XP_011538341.1:p.Val1734Asp
XM_011540040.1:c.5198T>A	XP_011538342.1:p.Val1733Asp
XM_011540041.1:c.5144T>A	XP_011538343.1:p.Val1715Asp
XM_011540042.1:c.5204T>A	XP_011538344.1:p.Val1735Asp
XM_011540043.1:c.5204T>A	XP_011538345.1:p.Val1735Asp
XM_011540044.1:c.5069T>A	XP_011538346.1:p.Val1690Asp
XM_011540045.1:c.5204T>A	XP_011538347.1:p.Val1735Asp
XM_011540046.1:c.4664T>A	XP_011538348.1:p.Val1555Asp
XM_011540047.1:c.4022T>A	XP_011538349.1:p.Val1341Asp
XM_011540048.1:c.5204T>A	XP_011538350.1:p.Val1735Asp
XM_011540049.1:c.5204T>A	XP_011538351.1:p.Val1735Asp
XM_011540050.1:c.5204T>A	XP_011538352.1:p.Val1735Asp
XM_011540051.1:c.5204T>A	XP_011538353.1:p.Val1735Asp
XM_011540052.1:c.1532T>A	XP_011538354.1:p.Val511Asp
XM_011540053.1:c.5204T>A	XP_011538355.1:p.Val1735Asp
XR_945796.1:n.5447T>A
NM_022124.6:c.5009T>A MANE Select	NP_071407.4:p.Val1670Asp