Canonical Allele Identifier: CA1918886057
Community Standard Title: NM_022124.6(CDH23):c.8204T= (p.Leu2735=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807302T= , CM000672.2:g.71807302T= GRCh38
NC_000010.10:g.73567059T= , CM000672.1:g.73567059T= GRCh37
NC_000010.9:g.73237065T= NCBI36
NG_008835.1:g.415356T=

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.8204T= MANE Select NP_071407.4:p.Leu2735=
ENST00000224721.12:c.8204T= MANE Select ENSP00000224721.9:p.Leu2735=
NM_001171933.1:c.1484T= NP_001165404.1:p.Leu495=
NM_001171934.1:c.1484T= NP_001165405.1:p.Leu495=
NM_022124.5:c.8204T= NP_071407.4:p.Leu2735=
ENST00000224721.10:c.8219T= ENSP00000224721.8:p.Leu2740=
ENST00000398788.4:c.1484T= ENSP00000381768.3:p.Leu495=
ENST00000475158.1:n.1740T=
ENST00000619887.4:c.1484T= ENSP00000478374.1:p.Leu495=
ENST00000622827.4:c.8204T= ENSP00000483211.1:p.Leu2735=
ENST00000642965.1:c.2137T= ENSP00000495222.1:n.2137T=
ENST00000647092.1:c.1801T= ENSP00000495176.1:n.1801T=
XM_006717940.2:c.8399T= XP_006718003.1:p.Leu2800=
XM_006717942.2:c.8333T= XP_006718005.1:p.Leu2778=
XM_011540039.1:c.8396T= XP_011538341.1:p.Leu2799=
XM_011540040.1:c.8393T= XP_011538342.1:p.Leu2798=
XM_011540041.1:c.8339T= XP_011538343.1:p.Leu2780=
XM_011540042.1:c.8309T= XP_011538344.1:p.Leu2770=
XM_011540043.1:c.8399T= XP_011538345.1:p.Leu2800=
XM_011540044.1:c.8264T= XP_011538346.1:p.Leu2755=
XM_011540045.1:c.8399T= XP_011538347.1:p.Leu2800=
XM_011540046.1:c.7859T= XP_011538348.1:p.Leu2620=
XM_011540047.1:c.7217T= XP_011538349.1:p.Leu2406=
XM_011540052.1:c.4727T= XP_011538354.1:p.Leu1576=