Canonical Allele Identifier: CA5545646
Community Standard Title: NM_022124.6(CDH23):c.5112C>T (p.His1704=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71778233C>T , CM000672.2:g.71778233C>T GRCh38
NC_000010.10:g.73537990C>T , CM000672.1:g.73537990C>T GRCh37
NC_000010.9:g.73207996C>T NCBI36
NG_008835.1:g.386287C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5112C>T MANE Select NP_071407.4:p.His1704=
ENST00000224721.12:c.5112C>T MANE Select ENSP00000224721.9:p.His1704=
NM_022124.5:c.5112C>T NP_071407.4:p.His1704=
ENST00000224721.10:c.5127C>T ENSP00000224721.8:p.His1709=
ENST00000622827.4:c.5112C>T ENSP00000483211.1:p.His1704=
XM_006717940.2:c.5307C>T XP_006718003.1:p.His1769=
XM_006717942.2:c.5241C>T XP_006718005.1:p.His1747=
XM_011540039.1:c.5304C>T XP_011538341.1:p.His1768=
XM_011540040.1:c.5301C>T XP_011538342.1:p.His1767=
XM_011540041.1:c.5247C>T XP_011538343.1:p.His1749=
XM_011540042.1:c.5307C>T XP_011538344.1:p.His1769=
XM_011540043.1:c.5307C>T XP_011538345.1:p.His1769=
XM_011540044.1:c.5172C>T XP_011538346.1:p.His1724=
XM_011540045.1:c.5307C>T XP_011538347.1:p.His1769=
XM_011540046.1:c.4767C>T XP_011538348.1:p.His1589=
XM_011540047.1:c.4125C>T XP_011538349.1:p.His1375=
XM_011540048.1:c.5307C>T XP_011538350.1:p.His1769=
XM_011540049.1:c.5307C>T XP_011538351.1:p.His1769=
XM_011540050.1:c.5307C>T XP_011538352.1:p.His1769=
XM_011540051.1:c.5307C>T XP_011538353.1:p.His1769=
XM_011540052.1:c.1635C>T XP_011538354.1:p.His545=
XM_011540053.1:c.5307C>T XP_011538355.1:p.His1769=
XR_945796.1:n.5550C>T