Canonical Allele Identifier: CA377127573

Gene: CDH23

Linked Data

• gnomAD v4: 10-71645876-C-T
• MyVariant Identifiers: chr10:g.73405633C>T (hg19) ; chr10:g.71645876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645876C>T , CM000672.2:g.71645876C>T	GRCh38
NC_000010.10:g.73405633C>T , CM000672.1:g.73405633C>T	GRCh37
NC_000010.9:g.73075639C>T	NCBI36
NG_008835.1:g.253930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1186C>T MANE Select	ENSP00000224721.9:p.His396Tyr
ENST00000398809.9:c.1186C>T	ENSP00000381789.5:p.His396Tyr
ENST00000442677.4:c.1186C>T	ENSP00000388894.3:p.His396Tyr
ENST00000466757.8:c.617C>T
ENST00000643732.1:n.1022C>T
ENST00000646131.1:c.850C>T	ENSP00000495098.1:p.His284Tyr
ENST00000224721.10:c.1201C>T	ENSP00000224721.8:p.His401Tyr
ENST00000299366.11:c.1186C>T	ENSP00000299366.8:p.His396Tyr
ENST00000398809.8:c.1186C>T	ENSP00000381789.5:p.His396Tyr
ENST00000398842.7:c.931C>T	ENSP00000381822.4:p.His311Tyr
ENST00000461841.7:c.1186C>T	ENSP00000473454.2:p.His396Tyr
ENST00000466757.7:c.617C>T
ENST00000470494.5:c.155C>T
ENST00000616684.4:c.1186C>T	ENSP00000482036.2:p.His396Tyr
ENST00000622827.4:c.1186C>T	ENSP00000483211.1:p.His396Tyr
NM_001171930.1:c.1186C>T	NP_001165401.1:p.His396Tyr
NM_001171931.1:c.1186C>T	NP_001165402.1:p.His396Tyr
NM_022124.5:c.1186C>T	NP_071407.4:p.His396Tyr
NM_052836.3:c.1186C>T	NP_443068.1:p.His396Tyr
XM_006717940.2:c.1381C>T	XP_006718003.1:p.His461Tyr
XM_006717942.2:c.1315C>T	XP_006718005.1:p.His439Tyr
XM_011540039.1:c.1381C>T	XP_011538341.1:p.His461Tyr
XM_011540040.1:c.1375C>T	XP_011538342.1:p.His459Tyr
XM_011540041.1:c.1321C>T	XP_011538343.1:p.His441Tyr
XM_011540042.1:c.1381C>T	XP_011538344.1:p.His461Tyr
XM_011540043.1:c.1381C>T	XP_011538345.1:p.His461Tyr
XM_011540044.1:c.1246C>T	XP_011538346.1:p.His416Tyr
XM_011540045.1:c.1381C>T	XP_011538347.1:p.His461Tyr
XM_011540046.1:c.841C>T	XP_011538348.1:p.His281Tyr
XM_011540047.1:c.199C>T	XP_011538349.1:p.His67Tyr
XM_011540048.1:c.1381C>T	XP_011538350.1:p.His461Tyr
XM_011540049.1:c.1381C>T	XP_011538351.1:p.His461Tyr
XM_011540050.1:c.1381C>T	XP_011538352.1:p.His461Tyr
XM_011540051.1:c.1381C>T	XP_011538353.1:p.His461Tyr
XM_011540053.1:c.1381C>T	XP_011538355.1:p.His461Tyr
XM_011540054.1:c.1321C>T	XP_011538356.1:p.His441Tyr
XR_945796.1:n.1624C>T
NM_001171930.2:c.1186C>T	NP_001165401.1:p.His396Tyr
NM_001171931.2:c.1186C>T	NP_001165402.1:p.His396Tyr
NM_022124.6:c.1186C>T MANE Select	NP_071407.4:p.His396Tyr
NM_052836.4:c.1186C>T	NP_443068.1:p.His396Tyr