Canonical Allele Identifier: CA377160319

Gene: CDH23

Linked Data

• dbSNP Id: rs1564769293
• gnomAD v4: 10-71740829-C-T
• MyVariant Identifiers: chr10:g.73500586C>T (hg19) ; chr10:g.71740829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740829C>T , CM000672.2:g.71740829C>T	GRCh38
NC_000010.10:g.73500586C>T , CM000672.1:g.73500586C>T	GRCh37
NC_000010.9:g.73170592C>T	NCBI36
NG_008835.1:g.348883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4496C>T MANE Select	ENSP00000224721.9:p.Ala1499Val
ENST00000224721.10:c.4511C>T	ENSP00000224721.8:p.Ala1504Val
ENST00000398792.3:n.1185C>T
ENST00000622827.4:c.4496C>T	ENSP00000483211.1:p.Ala1499Val
NM_022124.5:c.4496C>T	NP_071407.4:p.Ala1499Val
XM_006717940.2:c.4691C>T	XP_006718003.1:p.Ala1564Val
XM_006717942.2:c.4625C>T	XP_006718005.1:p.Ala1542Val
XM_011540039.1:c.4688C>T	XP_011538341.1:p.Ala1563Val
XM_011540040.1:c.4685C>T	XP_011538342.1:p.Ala1562Val
XM_011540041.1:c.4631C>T	XP_011538343.1:p.Ala1544Val
XM_011540042.1:c.4691C>T	XP_011538344.1:p.Ala1564Val
XM_011540043.1:c.4691C>T	XP_011538345.1:p.Ala1564Val
XM_011540044.1:c.4556C>T	XP_011538346.1:p.Ala1519Val
XM_011540045.1:c.4691C>T	XP_011538347.1:p.Ala1564Val
XM_011540046.1:c.4151C>T	XP_011538348.1:p.Ala1384Val
XM_011540047.1:c.3509C>T	XP_011538349.1:p.Ala1170Val
XM_011540048.1:c.4691C>T	XP_011538350.1:p.Ala1564Val
XM_011540049.1:c.4691C>T	XP_011538351.1:p.Ala1564Val
XM_011540050.1:c.4691C>T	XP_011538352.1:p.Ala1564Val
XM_011540051.1:c.4691C>T	XP_011538353.1:p.Ala1564Val
XM_011540052.1:c.1019C>T	XP_011538354.1:p.Ala340Val
XM_011540053.1:c.4691C>T	XP_011538355.1:p.Ala1564Val
XR_945796.1:n.4934C>T
NM_022124.6:c.4496C>T MANE Select	NP_071407.4:p.Ala1499Val