Canonical Allele Identifier: CA377127804

Gene: CDH23

Linked Data

• dbSNP Id: rs1173259611
• gnomAD v2: 10-73405702-C-A
• gnomAD v4: 10-71645945-C-A
• MyVariant Identifiers: chr10:g.73405702C>A (hg19) ; chr10:g.71645945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645945C>A , CM000672.2:g.71645945C>A	GRCh38
NC_000010.10:g.73405702C>A , CM000672.1:g.73405702C>A	GRCh37
NC_000010.9:g.73075708C>A	NCBI36
NG_008835.1:g.253999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1255C>A MANE Select	ENSP00000224721.9:p.Leu419Met
ENST00000398809.9:c.1255C>A	ENSP00000381789.5:p.Leu419Met
ENST00000442677.4:c.1255C>A	ENSP00000388894.3:p.Leu419Met
ENST00000466757.8:c.686C>A
ENST00000643732.1:n.1091C>A
ENST00000646131.1:c.919C>A	ENSP00000495098.1:p.Leu307Met
ENST00000224721.10:c.1270C>A	ENSP00000224721.8:p.Leu424Met
ENST00000299366.11:c.1255C>A	ENSP00000299366.8:p.Leu419Met
ENST00000398809.8:c.1255C>A	ENSP00000381789.5:p.Leu419Met
ENST00000398842.7:c.1000C>A	ENSP00000381822.4:p.Leu334Met
ENST00000442677.3:c.30C>A
ENST00000461841.7:c.1255C>A	ENSP00000473454.2:p.Leu419Met
ENST00000466757.7:c.686C>A
ENST00000470494.5:c.224C>A
ENST00000616684.4:c.1255C>A	ENSP00000482036.2:p.Leu419Met
ENST00000622827.4:c.1255C>A	ENSP00000483211.1:p.Leu419Met
NM_001171930.1:c.1255C>A	NP_001165401.1:p.Leu419Met
NM_001171931.1:c.1255C>A	NP_001165402.1:p.Leu419Met
NM_022124.5:c.1255C>A	NP_071407.4:p.Leu419Met
NM_052836.3:c.1255C>A	NP_443068.1:p.Leu419Met
XM_006717940.2:c.1450C>A	XP_006718003.1:p.Leu484Met
XM_006717942.2:c.1384C>A	XP_006718005.1:p.Leu462Met
XM_011540039.1:c.1450C>A	XP_011538341.1:p.Leu484Met
XM_011540040.1:c.1444C>A	XP_011538342.1:p.Leu482Met
XM_011540041.1:c.1390C>A	XP_011538343.1:p.Leu464Met
XM_011540042.1:c.1450C>A	XP_011538344.1:p.Leu484Met
XM_011540043.1:c.1450C>A	XP_011538345.1:p.Leu484Met
XM_011540044.1:c.1315C>A	XP_011538346.1:p.Leu439Met
XM_011540045.1:c.1450C>A	XP_011538347.1:p.Leu484Met
XM_011540046.1:c.910C>A	XP_011538348.1:p.Leu304Met
XM_011540047.1:c.268C>A	XP_011538349.1:p.Leu90Met
XM_011540048.1:c.1450C>A	XP_011538350.1:p.Leu484Met
XM_011540049.1:c.1450C>A	XP_011538351.1:p.Leu484Met
XM_011540050.1:c.1450C>A	XP_011538352.1:p.Leu484Met
XM_011540051.1:c.1450C>A	XP_011538353.1:p.Leu484Met
XM_011540053.1:c.1450C>A	XP_011538355.1:p.Leu484Met
XM_011540054.1:c.1390C>A	XP_011538356.1:p.Leu464Met
XR_945796.1:n.1693C>A
NM_001171930.2:c.1255C>A	NP_001165401.1:p.Leu419Met
NM_001171931.2:c.1255C>A	NP_001165402.1:p.Leu419Met
NM_022124.6:c.1255C>A MANE Select	NP_071407.4:p.Leu419Met
NM_052836.4:c.1255C>A	NP_443068.1:p.Leu419Met