Canonical Allele Identifier: CA1918892282
Community Standard Title: NM_022124.6(CDH23):c.9412C= (p.Arg3138=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71812511C= , CM000672.2:g.71812511C= GRCh38
NC_000010.10:g.73572268C= , CM000672.1:g.73572268C= GRCh37
NC_000010.9:g.73242274C= NCBI36
NG_008835.1:g.420565C=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9412C= MANE Select NP_071407.4:p.Arg3138=
ENST00000224721.12:c.9412C= MANE Select ENSP00000224721.9:p.Arg3138=
NM_001171933.1:c.2692C= NP_001165404.1:p.Arg898=
NM_001171934.1:c.2692C= NP_001165405.1:p.Arg898=
NM_001171935.1:c.103C= NP_001165406.1:p.Arg35=
NM_001171936.1:c.103C= NP_001165407.1:p.Arg35=
NM_022124.5:c.9412C= NP_071407.4:p.Arg3138=
ENST00000224721.10:c.9427C= ENSP00000224721.8:p.Arg3143=
ENST00000398788.4:c.2692C= ENSP00000381768.3:p.Arg898=
ENST00000475158.1:n.2948C=
ENST00000619887.4:c.2692C= ENSP00000478374.1:p.Arg898=
ENST00000622827.4:c.9412C= ENSP00000483211.1:p.Arg3138=
ENST00000642965.1:c.3345C= ENSP00000495222.1:n.3345C=
ENST00000647092.1:c.3009C= ENSP00000495176.1:n.3009C=
XM_006717940.2:c.9607C= XP_006718003.1:p.Arg3203=
XM_006717942.2:c.9541C= XP_006718005.1:p.Arg3181=
XM_011540039.1:c.9604C= XP_011538341.1:p.Arg3202=
XM_011540040.1:c.9601C= XP_011538342.1:p.Arg3201=
XM_011540041.1:c.9547C= XP_011538343.1:p.Arg3183=
XM_011540042.1:c.9517C= XP_011538344.1:p.Arg3173=
XM_011540043.1:c.9607C= XP_011538345.1:p.Arg3203=
XM_011540044.1:c.9472C= XP_011538346.1:p.Arg3158=
XM_011540045.1:c.9607C= XP_011538347.1:p.Arg3203=
XM_011540046.1:c.9067C= XP_011538348.1:p.Arg3023=
XM_011540047.1:c.8425C= XP_011538349.1:p.Arg2809=
XM_011540052.1:c.5935C= XP_011538354.1:p.Arg1979=