Canonical Allele Identifier: CA1918890848
Community Standard Title: NM_022124.6(CDH23):c.9127C= (p.Arg3043=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71811364C= , CM000672.2:g.71811364C= GRCh38
NC_000010.10:g.73571121C= , CM000672.1:g.73571121C= GRCh37
NC_000010.9:g.73241127C= NCBI36
NG_008835.1:g.419418C=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9127C= MANE Select NP_071407.4:p.Arg3043=
ENST00000224721.12:c.9127C= MANE Select ENSP00000224721.9:p.Arg3043=
NM_001171933.1:c.2407C= NP_001165404.1:p.Arg803=
NM_001171934.1:c.2407C= NP_001165405.1:p.Arg803=
NM_022124.5:c.9127C= NP_071407.4:p.Arg3043=
ENST00000224721.10:c.9142C= ENSP00000224721.8:p.Arg3048=
ENST00000398788.4:c.2407C= ENSP00000381768.3:p.Arg803=
ENST00000475158.1:n.2663C=
ENST00000619887.4:c.2407C= ENSP00000478374.1:p.Arg803=
ENST00000622827.4:c.9127C= ENSP00000483211.1:p.Arg3043=
ENST00000642965.1:c.3060C= ENSP00000495222.1:n.3060C=
ENST00000647092.1:c.2724C= ENSP00000495176.1:n.2724C=
XM_006717940.2:c.9322C= XP_006718003.1:p.Arg3108=
XM_006717942.2:c.9256C= XP_006718005.1:p.Arg3086=
XM_011540039.1:c.9319C= XP_011538341.1:p.Arg3107=
XM_011540040.1:c.9316C= XP_011538342.1:p.Arg3106=
XM_011540041.1:c.9262C= XP_011538343.1:p.Arg3088=
XM_011540042.1:c.9232C= XP_011538344.1:p.Arg3078=
XM_011540043.1:c.9322C= XP_011538345.1:p.Arg3108=
XM_011540044.1:c.9187C= XP_011538346.1:p.Arg3063=
XM_011540045.1:c.9322C= XP_011538347.1:p.Arg3108=
XM_011540046.1:c.8782C= XP_011538348.1:p.Arg2928=
XM_011540047.1:c.8140C= XP_011538349.1:p.Arg2714=
XM_011540052.1:c.5650C= XP_011538354.1:p.Arg1884=