Canonical Allele Identifier: CA5544513
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 300423
dbSNP Id: rs140255091

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71709204G>A , CM000672.2:g.71709204G>A GRCh38
NC_000010.10:g.73468961G>A , CM000672.1:g.73468961G>A GRCh37
NC_000010.9:g.73138967G>A NCBI36
NG_008835.1:g.317258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3213G>A MANE Select ENSP00000224721.9:p.Glu1071=
ENST00000398809.9:c.3213G>A ENSP00000381789.5:p.Glu1071=
ENST00000442677.4:c.3213G>A ENSP00000388894.3:p.Glu1071=
ENST00000466757.8:c.2644G>A
ENST00000224721.10:c.3228G>A ENSP00000224721.8:p.Glu1076=
ENST00000398809.8:c.3213G>A ENSP00000381789.5:p.Glu1071=
ENST00000442677.3:c.1988G>A
ENST00000466757.7:c.2644G>A
ENST00000616684.4:c.3213G>A ENSP00000482036.2:p.Glu1071=
ENST00000622827.4:c.3213G>A ENSP00000483211.1:p.Glu1071=
NM_001171930.1:c.3213G>A NP_001165401.1:p.Glu1071=
NM_022124.5:c.3213G>A NP_071407.4:p.Glu1071=
XM_006717940.2:c.3408G>A XP_006718003.1:p.Glu1136=
XM_006717942.2:c.3342G>A XP_006718005.1:p.Glu1114=
XM_011540039.1:c.3408G>A XP_011538341.1:p.Glu1136=
XM_011540040.1:c.3402G>A XP_011538342.1:p.Glu1134=
XM_011540041.1:c.3348G>A XP_011538343.1:p.Glu1116=
XM_011540042.1:c.3408G>A XP_011538344.1:p.Glu1136=
XM_011540043.1:c.3408G>A XP_011538345.1:p.Glu1136=
XM_011540044.1:c.3273G>A XP_011538346.1:p.Glu1091=
XM_011540045.1:c.3408G>A XP_011538347.1:p.Glu1136=
XM_011540046.1:c.2868G>A XP_011538348.1:p.Glu956=
XM_011540047.1:c.2226G>A XP_011538349.1:p.Glu742=
XM_011540048.1:c.3408G>A XP_011538350.1:p.Glu1136=
XM_011540049.1:c.3408G>A XP_011538351.1:p.Glu1136=
XM_011540050.1:c.3408G>A XP_011538352.1:p.Glu1136=
XM_011540051.1:c.3408G>A XP_011538353.1:p.Glu1136=
XM_011540053.1:c.3408G>A XP_011538355.1:p.Glu1136=
XR_945796.1:n.3651G>A
NM_001171930.2:c.3213G>A NP_001165401.1:p.Glu1071=
NM_022124.6:c.3213G>A MANE Select NP_071407.4:p.Glu1071=