Canonical Allele Identifier: CA377160822

Gene: CDH23

Linked Data

• gnomAD v4: 10-71740949-A-G
• MyVariant Identifiers: chr10:g.73500706A>G (hg19) ; chr10:g.71740949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740949A>G , CM000672.2:g.71740949A>G	GRCh38
NC_000010.10:g.73500706A>G , CM000672.1:g.73500706A>G	GRCh37
NC_000010.9:g.73170712A>G	NCBI36
NG_008835.1:g.349003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4616A>G MANE Select	ENSP00000224721.9:p.Glu1539Gly
ENST00000224721.10:c.4631A>G	ENSP00000224721.8:p.Glu1544Gly
ENST00000398792.3:n.1305A>G
ENST00000622827.4:c.4616A>G	ENSP00000483211.1:p.Glu1539Gly
NM_022124.5:c.4616A>G	NP_071407.4:p.Glu1539Gly
XM_006717940.2:c.4811A>G	XP_006718003.1:p.Glu1604Gly
XM_006717942.2:c.4745A>G	XP_006718005.1:p.Glu1582Gly
XM_011540039.1:c.4808A>G	XP_011538341.1:p.Glu1603Gly
XM_011540040.1:c.4805A>G	XP_011538342.1:p.Glu1602Gly
XM_011540041.1:c.4751A>G	XP_011538343.1:p.Glu1584Gly
XM_011540042.1:c.4811A>G	XP_011538344.1:p.Glu1604Gly
XM_011540043.1:c.4811A>G	XP_011538345.1:p.Glu1604Gly
XM_011540044.1:c.4676A>G	XP_011538346.1:p.Glu1559Gly
XM_011540045.1:c.4811A>G	XP_011538347.1:p.Glu1604Gly
XM_011540046.1:c.4271A>G	XP_011538348.1:p.Glu1424Gly
XM_011540047.1:c.3629A>G	XP_011538349.1:p.Glu1210Gly
XM_011540048.1:c.4811A>G	XP_011538350.1:p.Glu1604Gly
XM_011540049.1:c.4811A>G	XP_011538351.1:p.Glu1604Gly
XM_011540050.1:c.4811A>G	XP_011538352.1:p.Glu1604Gly
XM_011540051.1:c.4811A>G	XP_011538353.1:p.Glu1604Gly
XM_011540052.1:c.1139A>G	XP_011538354.1:p.Glu380Gly
XM_011540053.1:c.4811A>G	XP_011538355.1:p.Glu1604Gly
XR_945796.1:n.5054A>G
NM_022124.6:c.4616A>G MANE Select	NP_071407.4:p.Glu1539Gly