Canonical Allele Identifier: CA5545951
Community Standard Title: NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71790334A>G , CM000672.2:g.71790334A>G GRCh38
NC_000010.10:g.73550091A>G , CM000672.1:g.73550091A>G GRCh37
NC_000010.9:g.73220097A>G NCBI36
NG_008835.1:g.398388A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5970A>G MANE Select NP_071407.4:p.Ala1990=
ENST00000224721.12:c.5970A>G MANE Select ENSP00000224721.9:p.Ala1990=
NM_022124.5:c.5970A>G NP_071407.4:p.Ala1990=
ENST00000224721.10:c.5985A>G ENSP00000224721.8:p.Ala1995=
ENST00000622827.4:c.5970A>G ENSP00000483211.1:p.Ala1990=
XM_006717940.2:c.6165A>G XP_006718003.1:p.Ala2055=
XM_006717942.2:c.6099A>G XP_006718005.1:p.Ala2033=
XM_011540039.1:c.6162A>G XP_011538341.1:p.Ala2054=
XM_011540040.1:c.6159A>G XP_011538342.1:p.Ala2053=
XM_011540041.1:c.6105A>G XP_011538343.1:p.Ala2035=
XM_011540042.1:c.6165A>G XP_011538344.1:p.Ala2055=
XM_011540043.1:c.6165A>G XP_011538345.1:p.Ala2055=
XM_011540044.1:c.6030A>G XP_011538346.1:p.Ala2010=
XM_011540045.1:c.6165A>G XP_011538347.1:p.Ala2055=
XM_011540046.1:c.5625A>G XP_011538348.1:p.Ala1875=
XM_011540047.1:c.4983A>G XP_011538349.1:p.Ala1661=
XM_011540048.1:c.6165A>G XP_011538350.1:p.Ala2055=
XM_011540049.1:c.6165A>G XP_011538351.1:p.Ala2055=
XM_011540050.1:c.6165A>G XP_011538352.1:p.Ala2055=
XM_011540051.1:c.6165A>G XP_011538353.1:p.Ala2055=
XM_011540052.1:c.2493A>G XP_011538354.1:p.Ala831=
XR_945796.1:n.6408A>G