Canonical Allele Identifier: CA377146708

Gene: CDH23

Linked Data

• dbSNP Id: rs2132939278
• MyVariant Identifiers: chr10:g.73544741G>A (hg19) ; chr10:g.71784984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71784984G>A , CM000672.2:g.71784984G>A	GRCh38
NC_000010.10:g.73544741G>A , CM000672.1:g.73544741G>A	GRCh37
NC_000010.9:g.73214747G>A	NCBI36
NG_008835.1:g.393038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5596G>A MANE Select	ENSP00000224721.9:p.Val1866Ile
ENST00000224721.10:c.5611G>A	ENSP00000224721.8:p.Val1871Ile
ENST00000622827.4:c.5596G>A	ENSP00000483211.1:p.Val1866Ile
NM_022124.5:c.5596G>A	NP_071407.4:p.Val1866Ile
XM_006717940.2:c.5791G>A	XP_006718003.1:p.Val1931Ile
XM_006717942.2:c.5725G>A	XP_006718005.1:p.Val1909Ile
XM_011540039.1:c.5788G>A	XP_011538341.1:p.Val1930Ile
XM_011540040.1:c.5785G>A	XP_011538342.1:p.Val1929Ile
XM_011540041.1:c.5731G>A	XP_011538343.1:p.Val1911Ile
XM_011540042.1:c.5791G>A	XP_011538344.1:p.Val1931Ile
XM_011540043.1:c.5791G>A	XP_011538345.1:p.Val1931Ile
XM_011540044.1:c.5656G>A	XP_011538346.1:p.Val1886Ile
XM_011540045.1:c.5791G>A	XP_011538347.1:p.Val1931Ile
XM_011540046.1:c.5251G>A	XP_011538348.1:p.Val1751Ile
XM_011540047.1:c.4609G>A	XP_011538349.1:p.Val1537Ile
XM_011540048.1:c.5791G>A	XP_011538350.1:p.Val1931Ile
XM_011540049.1:c.5791G>A	XP_011538351.1:p.Val1931Ile
XM_011540050.1:c.5791G>A	XP_011538352.1:p.Val1931Ile
XM_011540051.1:c.5791G>A	XP_011538353.1:p.Val1931Ile
XM_011540052.1:c.2119G>A	XP_011538354.1:p.Val707Ile
XM_011540053.1:c.5791G>A	XP_011538355.1:p.Val1931Ile
XR_945796.1:n.6034G>A
NM_022124.6:c.5596G>A MANE Select	NP_071407.4:p.Val1866Ile