Canonical Allele Identifier: CA5544852
Community Standard Title: NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71732091G>A , CM000672.2:g.71732091G>A GRCh38
NC_000010.10:g.73491848G>A , CM000672.1:g.73491848G>A GRCh37
NC_000010.9:g.73161854G>A NCBI36
NG_008835.1:g.340145G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.3820G>A (CDH23) MANE Select NP_071407.4:p.Glu1274Lys
ENST00000224721.12:c.3820G>A (CDH23) MANE Select ENSP00000224721.9:p.Glu1274Lys
NM_001168390.1:c.-6+5637C>T (C10orf105) NP_001161862.1:n.-6+5637C>T
NM_001168390.2:c.-6+5637C>T (C10orf105) NP_001161862.1:n.-6+5637C>T
NM_001171930.1:c.3820G>A (CDH23) NP_001165401.1:p.Glu1274Lys
NM_001171930.2:c.3820G>A (CDH23) NP_001165401.1:p.Glu1274Lys
NM_022124.5:c.3820G>A (CDH23) NP_071407.4:p.Glu1274Lys
ENST00000224721.10:c.3835G>A (CDH23) ENSP00000224721.8:p.Glu1279Lys
ENST00000398786.2:c.-6+5637C>T (C10orf105) ENSP00000381766.3:n.-6+5637C>T
ENST00000398792.3:n.512G>A (CDH23)
ENST00000398809.8:c.3817G>A (CDH23) ENSP00000381789.5:p.Glu1273Lys
ENST00000398809.9:c.3817G>A (CDH23) ENSP00000381789.5:p.Glu1273Lys
ENST00000616684.4:c.3820G>A (CDH23) ENSP00000482036.2:p.Glu1274Lys
ENST00000622827.4:c.3820G>A (CDH23) ENSP00000483211.1:p.Glu1274Lys
XM_006717940.2:c.4015G>A (CDH23) XP_006718003.1:p.Glu1339Lys
XM_006717942.2:c.3949G>A (CDH23) XP_006718005.1:p.Glu1317Lys
XM_011540039.1:c.4015G>A (CDH23) XP_011538341.1:p.Glu1339Lys
XM_011540040.1:c.4009G>A (CDH23) XP_011538342.1:p.Glu1337Lys
XM_011540041.1:c.3955G>A (CDH23) XP_011538343.1:p.Glu1319Lys
XM_011540042.1:c.4015G>A (CDH23) XP_011538344.1:p.Glu1339Lys
XM_011540043.1:c.4015G>A (CDH23) XP_011538345.1:p.Glu1339Lys
XM_011540044.1:c.3880G>A (CDH23) XP_011538346.1:p.Glu1294Lys
XM_011540045.1:c.4015G>A (CDH23) XP_011538347.1:p.Glu1339Lys
XM_011540046.1:c.3475G>A (CDH23) XP_011538348.1:p.Glu1159Lys
XM_011540047.1:c.2833G>A (CDH23) XP_011538349.1:p.Glu945Lys
XM_011540048.1:c.4015G>A (CDH23) XP_011538350.1:p.Glu1339Lys
XM_011540049.1:c.4015G>A (CDH23) XP_011538351.1:p.Glu1339Lys
XM_011540050.1:c.4015G>A (CDH23) XP_011538352.1:p.Glu1339Lys
XM_011540051.1:c.4015G>A (CDH23) XP_011538353.1:p.Glu1339Lys
XM_011540052.1:c.343G>A (CDH23) XP_011538354.1:p.Glu115Lys
XM_011540053.1:c.4015G>A (CDH23) XP_011538355.1:p.Glu1339Lys
XR_945796.1:n.4258G>A (CDH23)