Canonical Allele Identifier: CA377154418
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71730515C>T , CM000672.2:g.71730515C>T GRCh38
NC_000010.10:g.73490272C>T , CM000672.1:g.73490272C>T GRCh37
NC_000010.9:g.73160278C>T NCBI36
NG_008835.1:g.338569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3626C>T (CDH23) MANE Select ENSP00000224721.9:p.Thr1209Ile
ENST00000398809.9:c.3623C>T (CDH23) ENSP00000381789.5:p.Thr1208Ile
ENST00000224721.10:c.3641C>T (CDH23) ENSP00000224721.8:p.Thr1214Ile
ENST00000398786.2:c.-6+7213G>A (C10orf105) ENSP00000381766.3:n.-6+7213G>A
ENST00000398792.3:n.318C>T (CDH23)
ENST00000398809.8:c.3623C>T (CDH23) ENSP00000381789.5:p.Thr1208Ile
ENST00000616684.4:c.3626C>T (CDH23) ENSP00000482036.2:p.Thr1209Ile
ENST00000622827.4:c.3626C>T (CDH23) ENSP00000483211.1:p.Thr1209Ile
NM_001168390.1:c.-6+7213G>A (C10orf105) NP_001161862.1:n.-6+7213G>A
NM_001171930.1:c.3626C>T (CDH23) NP_001165401.1:p.Thr1209Ile
NM_022124.5:c.3626C>T (CDH23) NP_071407.4:p.Thr1209Ile
XM_006717940.2:c.3821C>T (CDH23) XP_006718003.1:p.Thr1274Ile
XM_006717942.2:c.3755C>T (CDH23) XP_006718005.1:p.Thr1252Ile
XM_011540039.1:c.3821C>T (CDH23) XP_011538341.1:p.Thr1274Ile
XM_011540040.1:c.3815C>T (CDH23) XP_011538342.1:p.Thr1272Ile
XM_011540041.1:c.3761C>T (CDH23) XP_011538343.1:p.Thr1254Ile
XM_011540042.1:c.3821C>T (CDH23) XP_011538344.1:p.Thr1274Ile
XM_011540043.1:c.3821C>T (CDH23) XP_011538345.1:p.Thr1274Ile
XM_011540044.1:c.3686C>T (CDH23) XP_011538346.1:p.Thr1229Ile
XM_011540045.1:c.3821C>T (CDH23) XP_011538347.1:p.Thr1274Ile
XM_011540046.1:c.3281C>T (CDH23) XP_011538348.1:p.Thr1094Ile
XM_011540047.1:c.2639C>T (CDH23) XP_011538349.1:p.Thr880Ile
XM_011540048.1:c.3821C>T (CDH23) XP_011538350.1:p.Thr1274Ile
XM_011540049.1:c.3821C>T (CDH23) XP_011538351.1:p.Thr1274Ile
XM_011540050.1:c.3821C>T (CDH23) XP_011538352.1:p.Thr1274Ile
XM_011540051.1:c.3821C>T (CDH23) XP_011538353.1:p.Thr1274Ile
XM_011540052.1:c.149C>T (CDH23) XP_011538354.1:p.Thr50Ile
XM_011540053.1:c.3821C>T (CDH23) XP_011538355.1:p.Thr1274Ile
XR_945796.1:n.4064C>T (CDH23)
NM_001168390.2:c.-6+7213G>A (C10orf105) NP_001161862.1:n.-6+7213G>A
NM_001171930.2:c.3626C>T (CDH23) NP_001165401.1:p.Thr1209Ile
NM_022124.6:c.3626C>T (CDH23) MANE Select NP_071407.4:p.Thr1209Ile