Canonical Allele Identifier: CA1918892748
Community Standard Title: NM_022124.6(CDH23):c.9565C= (p.Arg3189=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71812822C= , CM000672.2:g.71812822C= GRCh38
NC_000010.10:g.73572579C= , CM000672.1:g.73572579C= GRCh37
NC_000010.9:g.73242585C= NCBI36
NG_008835.1:g.420876C=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9565C= MANE Select NP_071407.4:p.Arg3189=
ENST00000224721.12:c.9565C= MANE Select ENSP00000224721.9:p.Arg3189=
NM_001171933.1:c.2845C= NP_001165404.1:p.Arg949=
NM_001171934.1:c.2845C= NP_001165405.1:p.Arg949=
NM_001171935.1:c.256C= NP_001165406.1:p.Arg86=
NM_001171936.1:c.256C= NP_001165407.1:p.Arg86=
NM_022124.5:c.9565C= NP_071407.4:p.Arg3189=
ENST00000224721.10:c.9580C= ENSP00000224721.8:p.Arg3194=
ENST00000398788.4:c.2845C= ENSP00000381768.3:p.Arg949=
ENST00000475158.1:n.3101C=
ENST00000619887.4:c.2845C= ENSP00000478374.1:p.Arg949=
ENST00000622827.4:c.9565C= ENSP00000483211.1:p.Arg3189=
ENST00000642965.1:c.3498C= ENSP00000495222.1:n.3498C=
ENST00000647092.1:c.3162C= ENSP00000495176.1:n.3162C=
XM_006717940.2:c.9760C= XP_006718003.1:p.Arg3254=
XM_006717942.2:c.9694C= XP_006718005.1:p.Arg3232=
XM_011540039.1:c.9757C= XP_011538341.1:p.Arg3253=
XM_011540040.1:c.9754C= XP_011538342.1:p.Arg3252=
XM_011540041.1:c.9700C= XP_011538343.1:p.Arg3234=
XM_011540042.1:c.9670C= XP_011538344.1:p.Arg3224=
XM_011540043.1:c.9760C= XP_011538345.1:p.Arg3254=
XM_011540044.1:c.9625C= XP_011538346.1:p.Arg3209=
XM_011540045.1:c.9760C= XP_011538347.1:p.Arg3254=
XM_011540046.1:c.9220C= XP_011538348.1:p.Arg3074=
XM_011540047.1:c.8578C= XP_011538349.1:p.Arg2860=
XM_011540052.1:c.6088C= XP_011538354.1:p.Arg2030=