Canonical Allele Identifier: CA470282852
Community Standard Title: NM_022124.6(CDH23):c.9565C>A (p.Arg3189=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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