Canonical Allele Identifier: CA470059919
Community Standard Title: NM_022124.6(CDH23):c.2100C>T (p.Arg700=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71690508C>T , CM000672.2:g.71690508C>T GRCh38
NC_000010.10:g.73450265C>T , CM000672.1:g.73450265C>T GRCh37
NC_000010.9:g.73120271C>T NCBI36
NG_008835.1:g.298562C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.2100C>T MANE Select NP_071407.4:p.Arg700=
ENST00000224721.12:c.2100C>T MANE Select ENSP00000224721.9:p.Arg700=
NM_001171930.1:c.2100C>T NP_001165401.1:p.Arg700=
NM_001171930.2:c.2100C>T NP_001165401.1:p.Arg700=
NM_001171931.1:c.2100C>T NP_001165402.1:p.Arg700=
NM_001171931.2:c.2100C>T NP_001165402.1:p.Arg700=
NM_022124.5:c.2100C>T NP_071407.4:p.Arg700=
ENST00000224721.10:c.2115C>T ENSP00000224721.8:p.Arg705=
ENST00000299366.11:c.2100C>T ENSP00000299366.8:p.Arg700=
ENST00000398809.8:c.2100C>T ENSP00000381789.5:p.Arg700=
ENST00000398809.9:c.2100C>T ENSP00000381789.5:p.Arg700=
ENST00000442677.3:c.875C>T
ENST00000442677.4:c.2100C>T ENSP00000388894.3:p.Arg700=
ENST00000466757.7:c.1531C>T
ENST00000466757.8:c.1531C>T
ENST00000616684.4:c.2100C>T ENSP00000482036.2:p.Arg700=
ENST00000622827.4:c.2100C>T ENSP00000483211.1:p.Arg700=
XM_006717940.2:c.2295C>T XP_006718003.1:p.Arg765=
XM_006717942.2:c.2229C>T XP_006718005.1:p.Arg743=
XM_011540039.1:c.2295C>T XP_011538341.1:p.Arg765=
XM_011540040.1:c.2289C>T XP_011538342.1:p.Arg763=
XM_011540041.1:c.2235C>T XP_011538343.1:p.Arg745=
XM_011540042.1:c.2295C>T XP_011538344.1:p.Arg765=
XM_011540043.1:c.2295C>T XP_011538345.1:p.Arg765=
XM_011540044.1:c.2160C>T XP_011538346.1:p.Arg720=
XM_011540045.1:c.2295C>T XP_011538347.1:p.Arg765=
XM_011540046.1:c.1755C>T XP_011538348.1:p.Arg585=
XM_011540047.1:c.1113C>T XP_011538349.1:p.Arg371=
XM_011540048.1:c.2295C>T XP_011538350.1:p.Arg765=
XM_011540049.1:c.2295C>T XP_011538351.1:p.Arg765=
XM_011540050.1:c.2295C>T XP_011538352.1:p.Arg765=
XM_011540051.1:c.2295C>T XP_011538353.1:p.Arg765=
XM_011540053.1:c.2295C>T XP_011538355.1:p.Arg765=
XM_011540054.1:c.2235C>T XP_011538356.1:p.Arg745=
XR_945796.1:n.2538C>T