Canonical Allele Identifier: CA470062995
Community Standard Title: NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71803420G>A , CM000672.2:g.71803420G>A GRCh38
NC_000010.10:g.73563177G>A , CM000672.1:g.73563177G>A GRCh37
NC_000010.9:g.73233183G>A NCBI36
NG_008835.1:g.411474G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.7872G>A MANE Select NP_071407.4:p.Glu2624=
ENST00000224721.12:c.7872G>A MANE Select ENSP00000224721.9:p.Glu2624=
NM_001171933.1:c.1152G>A NP_001165404.1:p.Glu384=
NM_001171934.1:c.1152G>A NP_001165405.1:p.Glu384=
NM_022124.5:c.7872G>A NP_071407.4:p.Glu2624=
ENST00000224721.10:c.7887G>A ENSP00000224721.8:p.Glu2629=
ENST00000398788.4:c.1152G>A ENSP00000381768.3:p.Glu384=
ENST00000475158.1:n.1408G>A
ENST00000619887.4:c.1152G>A ENSP00000478374.1:p.Glu384=
ENST00000622827.4:c.7872G>A ENSP00000483211.1:p.Glu2624=
ENST00000642965.1:c.1805G>A ENSP00000495222.1:n.1805G>A
ENST00000647092.1:c.1469G>A ENSP00000495176.1:n.1469G>A
XM_006717940.2:c.8067G>A XP_006718003.1:p.Glu2689=
XM_006717942.2:c.8001G>A XP_006718005.1:p.Glu2667=
XM_011540039.1:c.8064G>A XP_011538341.1:p.Glu2688=
XM_011540040.1:c.8061G>A XP_011538342.1:p.Glu2687=
XM_011540041.1:c.8007G>A XP_011538343.1:p.Glu2669=
XM_011540042.1:c.7977G>A XP_011538344.1:p.Glu2659=
XM_011540043.1:c.8067G>A XP_011538345.1:p.Glu2689=
XM_011540044.1:c.7932G>A XP_011538346.1:p.Glu2644=
XM_011540045.1:c.8067G>A XP_011538347.1:p.Glu2689=
XM_011540046.1:c.7527G>A XP_011538348.1:p.Glu2509=
XM_011540047.1:c.6885G>A XP_011538349.1:p.Glu2295=
XM_011540052.1:c.4395G>A XP_011538354.1:p.Glu1465=