Canonical Allele Identifier: CA377157980
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798459G>A , CM000672.2:g.71798459G>A GRCh38
NC_000010.10:g.73558216G>A , CM000672.1:g.73558216G>A GRCh37
NC_000010.9:g.73228222G>A NCBI36
NG_008835.1:g.406513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6935G>A MANE Select ENSP00000224721.9:p.Gly2312Glu
ENST00000642965.1:c.868G>A ENSP00000495222.1:n.868G>A
ENST00000647092.1:c.532G>A ENSP00000495176.1:n.532G>A
ENST00000224721.10:c.6950G>A ENSP00000224721.8:p.Gly2317Glu
ENST00000398788.4:c.215G>A ENSP00000381768.3:p.Gly72Glu
ENST00000475158.1:n.471G>A
ENST00000619887.4:c.215G>A ENSP00000478374.1:p.Gly72Glu
ENST00000622827.4:c.6935G>A ENSP00000483211.1:p.Gly2312Glu
NM_001171933.1:c.215G>A NP_001165404.1:p.Gly72Glu
NM_001171934.1:c.215G>A NP_001165405.1:p.Gly72Glu
NM_022124.5:c.6935G>A NP_071407.4:p.Gly2312Glu
XM_006717940.2:c.7130G>A XP_006718003.1:p.Gly2377Glu
XM_006717942.2:c.7064G>A XP_006718005.1:p.Gly2355Glu
XM_011540039.1:c.7127G>A XP_011538341.1:p.Gly2376Glu
XM_011540040.1:c.7124G>A XP_011538342.1:p.Gly2375Glu
XM_011540041.1:c.7070G>A XP_011538343.1:p.Gly2357Glu
XM_011540042.1:c.7040G>A XP_011538344.1:p.Gly2347Glu
XM_011540043.1:c.7130G>A XP_011538345.1:p.Gly2377Glu
XM_011540044.1:c.6995G>A XP_011538346.1:p.Gly2332Glu
XM_011540045.1:c.7130G>A XP_011538347.1:p.Gly2377Glu
XM_011540046.1:c.6590G>A XP_011538348.1:p.Gly2197Glu
XM_011540047.1:c.5948G>A XP_011538349.1:p.Gly1983Glu
XM_011540052.1:c.3458G>A XP_011538354.1:p.Gly1153Glu
NM_022124.6:c.6935G>A MANE Select NP_071407.4:p.Gly2312Glu