Canonical Allele Identifier: CA377127653

Gene: CDH23

Linked Data

• gnomAD v4: 10-71645892-C-T
• MyVariant Identifiers: chr10:g.73405649C>T (hg19) ; chr10:g.71645892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645892C>T , CM000672.2:g.71645892C>T	GRCh38
NC_000010.10:g.73405649C>T , CM000672.1:g.73405649C>T	GRCh37
NC_000010.9:g.73075655C>T	NCBI36
NG_008835.1:g.253946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1202C>T MANE Select	ENSP00000224721.9:p.Ser401Phe
ENST00000398809.9:c.1202C>T	ENSP00000381789.5:p.Ser401Phe
ENST00000442677.4:c.1202C>T	ENSP00000388894.3:p.Ser401Phe
ENST00000466757.8:c.633C>T
ENST00000643732.1:n.1038C>T
ENST00000646131.1:c.866C>T	ENSP00000495098.1:p.Ser289Phe
ENST00000224721.10:c.1217C>T	ENSP00000224721.8:p.Ser406Phe
ENST00000299366.11:c.1202C>T	ENSP00000299366.8:p.Ser401Phe
ENST00000398809.8:c.1202C>T	ENSP00000381789.5:p.Ser401Phe
ENST00000398842.7:c.947C>T	ENSP00000381822.4:p.Ser316Phe
ENST00000461841.7:c.1202C>T	ENSP00000473454.2:p.Ser401Phe
ENST00000466757.7:c.633C>T
ENST00000470494.5:c.171C>T
ENST00000616684.4:c.1202C>T	ENSP00000482036.2:p.Ser401Phe
ENST00000622827.4:c.1202C>T	ENSP00000483211.1:p.Ser401Phe
NM_001171930.1:c.1202C>T	NP_001165401.1:p.Ser401Phe
NM_001171931.1:c.1202C>T	NP_001165402.1:p.Ser401Phe
NM_022124.5:c.1202C>T	NP_071407.4:p.Ser401Phe
NM_052836.3:c.1202C>T	NP_443068.1:p.Ser401Phe
XM_006717940.2:c.1397C>T	XP_006718003.1:p.Ser466Phe
XM_006717942.2:c.1331C>T	XP_006718005.1:p.Ser444Phe
XM_011540039.1:c.1397C>T	XP_011538341.1:p.Ser466Phe
XM_011540040.1:c.1391C>T	XP_011538342.1:p.Ser464Phe
XM_011540041.1:c.1337C>T	XP_011538343.1:p.Ser446Phe
XM_011540042.1:c.1397C>T	XP_011538344.1:p.Ser466Phe
XM_011540043.1:c.1397C>T	XP_011538345.1:p.Ser466Phe
XM_011540044.1:c.1262C>T	XP_011538346.1:p.Ser421Phe
XM_011540045.1:c.1397C>T	XP_011538347.1:p.Ser466Phe
XM_011540046.1:c.857C>T	XP_011538348.1:p.Ser286Phe
XM_011540047.1:c.215C>T	XP_011538349.1:p.Ser72Phe
XM_011540048.1:c.1397C>T	XP_011538350.1:p.Ser466Phe
XM_011540049.1:c.1397C>T	XP_011538351.1:p.Ser466Phe
XM_011540050.1:c.1397C>T	XP_011538352.1:p.Ser466Phe
XM_011540051.1:c.1397C>T	XP_011538353.1:p.Ser466Phe
XM_011540053.1:c.1397C>T	XP_011538355.1:p.Ser466Phe
XM_011540054.1:c.1337C>T	XP_011538356.1:p.Ser446Phe
XR_945796.1:n.1640C>T
NM_001171930.2:c.1202C>T	NP_001165401.1:p.Ser401Phe
NM_001171931.2:c.1202C>T	NP_001165402.1:p.Ser401Phe
NM_022124.6:c.1202C>T MANE Select	NP_071407.4:p.Ser401Phe
NM_052836.4:c.1202C>T	NP_443068.1:p.Ser401Phe