Canonical Allele Identifier: CA377160500
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740875G>T , CM000672.2:g.71740875G>T GRCh38
NC_000010.10:g.73500632G>T , CM000672.1:g.73500632G>T GRCh37
NC_000010.9:g.73170638G>T NCBI36
NG_008835.1:g.348929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.4542G>T MANE Select ENSP00000224721.9:p.Gln1514His
ENST00000224721.10:c.4557G>T ENSP00000224721.8:p.Gln1519His
ENST00000398792.3:n.1231G>T
ENST00000622827.4:c.4542G>T ENSP00000483211.1:p.Gln1514His
NM_022124.5:c.4542G>T NP_071407.4:p.Gln1514His
XM_006717940.2:c.4737G>T XP_006718003.1:p.Gln1579His
XM_006717942.2:c.4671G>T XP_006718005.1:p.Gln1557His
XM_011540039.1:c.4734G>T XP_011538341.1:p.Gln1578His
XM_011540040.1:c.4731G>T XP_011538342.1:p.Gln1577His
XM_011540041.1:c.4677G>T XP_011538343.1:p.Gln1559His
XM_011540042.1:c.4737G>T XP_011538344.1:p.Gln1579His
XM_011540043.1:c.4737G>T XP_011538345.1:p.Gln1579His
XM_011540044.1:c.4602G>T XP_011538346.1:p.Gln1534His
XM_011540045.1:c.4737G>T XP_011538347.1:p.Gln1579His
XM_011540046.1:c.4197G>T XP_011538348.1:p.Gln1399His
XM_011540047.1:c.3555G>T XP_011538349.1:p.Gln1185His
XM_011540048.1:c.4737G>T XP_011538350.1:p.Gln1579His
XM_011540049.1:c.4737G>T XP_011538351.1:p.Gln1579His
XM_011540050.1:c.4737G>T XP_011538352.1:p.Gln1579His
XM_011540051.1:c.4737G>T XP_011538353.1:p.Gln1579His
XM_011540052.1:c.1065G>T XP_011538354.1:p.Gln355His
XM_011540053.1:c.4737G>T XP_011538355.1:p.Gln1579His
XR_945796.1:n.4980G>T
NM_022124.6:c.4542G>T MANE Select NP_071407.4:p.Gln1514His