Canonical Allele Identifier: CA377146695
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71784979G>T , CM000672.2:g.71784979G>T GRCh38
NC_000010.10:g.73544736G>T , CM000672.1:g.73544736G>T GRCh37
NC_000010.9:g.73214742G>T NCBI36
NG_008835.1:g.393033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.5591G>T MANE Select ENSP00000224721.9:p.Ser1864Ile
ENST00000224721.10:c.5606G>T ENSP00000224721.8:p.Ser1869Ile
ENST00000622827.4:c.5591G>T ENSP00000483211.1:p.Ser1864Ile
NM_022124.5:c.5591G>T NP_071407.4:p.Ser1864Ile
XM_006717940.2:c.5786G>T XP_006718003.1:p.Ser1929Ile
XM_006717942.2:c.5720G>T XP_006718005.1:p.Ser1907Ile
XM_011540039.1:c.5783G>T XP_011538341.1:p.Ser1928Ile
XM_011540040.1:c.5780G>T XP_011538342.1:p.Ser1927Ile
XM_011540041.1:c.5726G>T XP_011538343.1:p.Ser1909Ile
XM_011540042.1:c.5786G>T XP_011538344.1:p.Ser1929Ile
XM_011540043.1:c.5786G>T XP_011538345.1:p.Ser1929Ile
XM_011540044.1:c.5651G>T XP_011538346.1:p.Ser1884Ile
XM_011540045.1:c.5786G>T XP_011538347.1:p.Ser1929Ile
XM_011540046.1:c.5246G>T XP_011538348.1:p.Ser1749Ile
XM_011540047.1:c.4604G>T XP_011538349.1:p.Ser1535Ile
XM_011540048.1:c.5786G>T XP_011538350.1:p.Ser1929Ile
XM_011540049.1:c.5786G>T XP_011538351.1:p.Ser1929Ile
XM_011540050.1:c.5786G>T XP_011538352.1:p.Ser1929Ile
XM_011540051.1:c.5786G>T XP_011538353.1:p.Ser1929Ile
XM_011540052.1:c.2114G>T XP_011538354.1:p.Ser705Ile
XM_011540053.1:c.5786G>T XP_011538355.1:p.Ser1929Ile
XR_945796.1:n.6029G>T
NM_022124.6:c.5591G>T MANE Select NP_071407.4:p.Ser1864Ile