Canonical Allele Identifier: CA5545707
Community Standard Title: NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71779390C>T , CM000672.2:g.71779390C>T GRCh38
NC_000010.10:g.73539147C>T , CM000672.1:g.73539147C>T GRCh37
NC_000010.9:g.73209153C>T NCBI36
NG_008835.1:g.387444C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5311C>T MANE Select NP_071407.4:p.Arg1771Ter
ENST00000224721.12:c.5311C>T MANE Select ENSP00000224721.9:p.Arg1771Ter
NM_022124.5:c.5311C>T NP_071407.4:p.Arg1771Ter
ENST00000224721.10:c.5326C>T ENSP00000224721.8:p.Arg1776Ter
ENST00000622827.4:c.5311C>T ENSP00000483211.1:p.Arg1771Ter
XM_006717940.2:c.5506C>T XP_006718003.1:p.Arg1836Ter
XM_006717942.2:c.5440C>T XP_006718005.1:p.Arg1814Ter
XM_011540039.1:c.5503C>T XP_011538341.1:p.Arg1835Ter
XM_011540040.1:c.5500C>T XP_011538342.1:p.Arg1834Ter
XM_011540041.1:c.5446C>T XP_011538343.1:p.Arg1816Ter
XM_011540042.1:c.5506C>T XP_011538344.1:p.Arg1836Ter
XM_011540043.1:c.5506C>T XP_011538345.1:p.Arg1836Ter
XM_011540044.1:c.5371C>T XP_011538346.1:p.Arg1791Ter
XM_011540045.1:c.5506C>T XP_011538347.1:p.Arg1836Ter
XM_011540046.1:c.4966C>T XP_011538348.1:p.Arg1656Ter
XM_011540047.1:c.4324C>T XP_011538349.1:p.Arg1442Ter
XM_011540048.1:c.5506C>T XP_011538350.1:p.Arg1836Ter
XM_011540049.1:c.5506C>T XP_011538351.1:p.Arg1836Ter
XM_011540050.1:c.5506C>T XP_011538352.1:p.Arg1836Ter
XM_011540051.1:c.5506C>T XP_011538353.1:p.Arg1836Ter
XM_011540052.1:c.1834C>T XP_011538354.1:p.Arg612Ter
XM_011540053.1:c.5506C>T XP_011538355.1:p.Arg1836Ter
XR_945796.1:n.5749C>T