Canonical Allele Identifier: CA5545000
Community Standard Title: NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71738563G>A , CM000672.2:g.71738563G>A GRCh38
NC_000010.10:g.73498320G>A , CM000672.1:g.73498320G>A GRCh37
NC_000010.9:g.73168326G>A NCBI36
NG_008835.1:g.346617G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.4275G>A MANE Select NP_071407.4:p.Ala1425=
ENST00000224721.12:c.4275G>A MANE Select ENSP00000224721.9:p.Ala1425=
NM_022124.5:c.4275G>A NP_071407.4:p.Ala1425=
ENST00000224721.10:c.4290G>A ENSP00000224721.8:p.Ala1430=
ENST00000398792.3:n.964G>A
ENST00000622827.4:c.4275G>A ENSP00000483211.1:p.Ala1425=
XM_006717940.2:c.4470G>A XP_006718003.1:p.Ala1490=
XM_006717942.2:c.4404G>A XP_006718005.1:p.Ala1468=
XM_011540039.1:c.4467G>A XP_011538341.1:p.Ala1489=
XM_011540040.1:c.4464G>A XP_011538342.1:p.Ala1488=
XM_011540041.1:c.4410G>A XP_011538343.1:p.Ala1470=
XM_011540042.1:c.4470G>A XP_011538344.1:p.Ala1490=
XM_011540043.1:c.4470G>A XP_011538345.1:p.Ala1490=
XM_011540044.1:c.4335G>A XP_011538346.1:p.Ala1445=
XM_011540045.1:c.4470G>A XP_011538347.1:p.Ala1490=
XM_011540046.1:c.3930G>A XP_011538348.1:p.Ala1310=
XM_011540047.1:c.3288G>A XP_011538349.1:p.Ala1096=
XM_011540048.1:c.4470G>A XP_011538350.1:p.Ala1490=
XM_011540049.1:c.4470G>A XP_011538351.1:p.Ala1490=
XM_011540050.1:c.4470G>A XP_011538352.1:p.Ala1490=
XM_011540051.1:c.4470G>A XP_011538353.1:p.Ala1490=
XM_011540052.1:c.798G>A XP_011538354.1:p.Ala266=
XM_011540053.1:c.4470G>A XP_011538355.1:p.Ala1490=
XR_945796.1:n.4713G>A