Canonical Allele Identifier: CA5543522

Gene: CDH23

Linked Data

• dbSNP Id: rs753526835
• ExAC: 10:73330650 C / T
• gnomAD v2: 10-73330650-C-T
• gnomAD v4: 10-71570893-C-T
• MyVariant Identifiers: chr10:g.73330650C>T (hg19) ; chr10:g.71570893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71570893C>T , CM000672.2:g.71570893C>T	GRCh38
NC_000010.10:g.73330650C>T , CM000672.1:g.73330650C>T	GRCh37
NC_000010.9:g.73000656C>T	NCBI36
NG_008835.1:g.178947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.728C>T MANE Select	ENSP00000224721.9:p.Thr243Ile
ENST00000398809.9:c.728C>T	ENSP00000381789.5:p.Thr243Ile
ENST00000442677.4:c.728C>T	ENSP00000388894.3:p.Thr243Ile
ENST00000466757.8:c.99C>T
ENST00000643732.1:n.504C>T
ENST00000646131.1:c.392C>T	ENSP00000495098.1:p.Thr131Ile
ENST00000224721.10:c.743C>T	ENSP00000224721.8:p.Thr248Ile
ENST00000299366.11:c.728C>T	ENSP00000299366.8:p.Thr243Ile
ENST00000398809.8:c.728C>T	ENSP00000381789.5:p.Thr243Ile
ENST00000398842.7:c.479C>T	ENSP00000381822.4:p.Thr160Ile
ENST00000461841.7:c.728C>T	ENSP00000473454.2:p.Thr243Ile
ENST00000466757.7:c.99C>T
ENST00000616684.4:c.728C>T	ENSP00000482036.2:p.Thr243Ile
ENST00000622827.4:c.728C>T	ENSP00000483211.1:p.Thr243Ile
NM_001171930.1:c.728C>T	NP_001165401.1:p.Thr243Ile
NM_001171931.1:c.728C>T	NP_001165402.1:p.Thr243Ile
NM_001171932.1:c.728C>T	NP_001165403.1:p.Thr243Ile
NM_022124.5:c.728C>T	NP_071407.4:p.Thr243Ile
NM_052836.3:c.728C>T	NP_443068.1:p.Thr243Ile
XM_006717940.2:c.863C>T	XP_006718003.1:p.Thr288Ile
XM_006717942.2:c.863C>T	XP_006718005.1:p.Thr288Ile
XM_011540039.1:c.863C>T	XP_011538341.1:p.Thr288Ile
XM_011540040.1:c.863C>T	XP_011538342.1:p.Thr288Ile
XM_011540041.1:c.863C>T	XP_011538343.1:p.Thr288Ile
XM_011540042.1:c.863C>T	XP_011538344.1:p.Thr288Ile
XM_011540043.1:c.863C>T	XP_011538345.1:p.Thr288Ile
XM_011540044.1:c.728C>T	XP_011538346.1:p.Thr243Ile
XM_011540045.1:c.863C>T	XP_011538347.1:p.Thr288Ile
XM_011540046.1:c.323C>T	XP_011538348.1:p.Thr108Ile
XM_011540048.1:c.863C>T	XP_011538350.1:p.Thr288Ile
XM_011540049.1:c.863C>T	XP_011538351.1:p.Thr288Ile
XM_011540050.1:c.863C>T	XP_011538352.1:p.Thr288Ile
XM_011540051.1:c.863C>T	XP_011538353.1:p.Thr288Ile
XM_011540053.1:c.863C>T	XP_011538355.1:p.Thr288Ile
XM_011540054.1:c.863C>T	XP_011538356.1:p.Thr288Ile
XR_246128.2:n.162-5759G>A
XR_945796.1:n.1106C>T
NM_001171930.2:c.728C>T	NP_001165401.1:p.Thr243Ile
NM_001171931.2:c.728C>T	NP_001165402.1:p.Thr243Ile
NM_022124.6:c.728C>T MANE Select	NP_071407.4:p.Thr243Ile
NM_052836.4:c.728C>T	NP_443068.1:p.Thr243Ile
NM_001171932.2:c.728C>T	NP_001165403.1:p.Thr243Ile