Canonical Allele Identifier: CA377150512

Gene: CDH23

Linked Data

• dbSNP Id: rs1411382554
• gnomAD v3: 10-71790314-C-A
• gnomAD v4: 10-71790314-C-A
• MyVariant Identifiers: chr10:g.73550071C>A (hg19) ; chr10:g.71790314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71790314C>A , CM000672.2:g.71790314C>A	GRCh38
NC_000010.10:g.73550071C>A , CM000672.1:g.73550071C>A	GRCh37
NC_000010.9:g.73220077C>A	NCBI36
NG_008835.1:g.398368C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5950C>A MANE Select	ENSP00000224721.9:p.Pro1984Thr
ENST00000224721.10:c.5965C>A	ENSP00000224721.8:p.Pro1989Thr
ENST00000622827.4:c.5950C>A	ENSP00000483211.1:p.Pro1984Thr
NM_022124.5:c.5950C>A	NP_071407.4:p.Pro1984Thr
XM_006717940.2:c.6145C>A	XP_006718003.1:p.Pro2049Thr
XM_006717942.2:c.6079C>A	XP_006718005.1:p.Pro2027Thr
XM_011540039.1:c.6142C>A	XP_011538341.1:p.Pro2048Thr
XM_011540040.1:c.6139C>A	XP_011538342.1:p.Pro2047Thr
XM_011540041.1:c.6085C>A	XP_011538343.1:p.Pro2029Thr
XM_011540042.1:c.6145C>A	XP_011538344.1:p.Pro2049Thr
XM_011540043.1:c.6145C>A	XP_011538345.1:p.Pro2049Thr
XM_011540044.1:c.6010C>A	XP_011538346.1:p.Pro2004Thr
XM_011540045.1:c.6145C>A	XP_011538347.1:p.Pro2049Thr
XM_011540046.1:c.5605C>A	XP_011538348.1:p.Pro1869Thr
XM_011540047.1:c.4963C>A	XP_011538349.1:p.Pro1655Thr
XM_011540048.1:c.6145C>A	XP_011538350.1:p.Pro2049Thr
XM_011540049.1:c.6145C>A	XP_011538351.1:p.Pro2049Thr
XM_011540050.1:c.6145C>A	XP_011538352.1:p.Pro2049Thr
XM_011540051.1:c.6145C>A	XP_011538353.1:p.Pro2049Thr
XM_011540052.1:c.2473C>A	XP_011538354.1:p.Pro825Thr
XR_945796.1:n.6388C>A
NM_022124.6:c.5950C>A MANE Select	NP_071407.4:p.Pro1984Thr