Canonical Allele Identifier: CA377159477
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1839637016

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71738616C>G , CM000672.2:g.71738616C>G GRCh38
NC_000010.10:g.73498373C>G , CM000672.1:g.73498373C>G GRCh37
NC_000010.9:g.73168379C>G NCBI36
NG_008835.1:g.346670C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.4328C>G MANE Select ENSP00000224721.9:p.Ala1443Gly
ENST00000224721.10:c.4343C>G ENSP00000224721.8:p.Ala1448Gly
ENST00000398792.3:n.1017C>G
ENST00000622827.4:c.4328C>G ENSP00000483211.1:p.Ala1443Gly
NM_022124.5:c.4328C>G NP_071407.4:p.Ala1443Gly
XM_006717940.2:c.4523C>G XP_006718003.1:p.Ala1508Gly
XM_006717942.2:c.4457C>G XP_006718005.1:p.Ala1486Gly
XM_011540039.1:c.4520C>G XP_011538341.1:p.Ala1507Gly
XM_011540040.1:c.4517C>G XP_011538342.1:p.Ala1506Gly
XM_011540041.1:c.4463C>G XP_011538343.1:p.Ala1488Gly
XM_011540042.1:c.4523C>G XP_011538344.1:p.Ala1508Gly
XM_011540043.1:c.4523C>G XP_011538345.1:p.Ala1508Gly
XM_011540044.1:c.4388C>G XP_011538346.1:p.Ala1463Gly
XM_011540045.1:c.4523C>G XP_011538347.1:p.Ala1508Gly
XM_011540046.1:c.3983C>G XP_011538348.1:p.Ala1328Gly
XM_011540047.1:c.3341C>G XP_011538349.1:p.Ala1114Gly
XM_011540048.1:c.4523C>G XP_011538350.1:p.Ala1508Gly
XM_011540049.1:c.4523C>G XP_011538351.1:p.Ala1508Gly
XM_011540050.1:c.4523C>G XP_011538352.1:p.Ala1508Gly
XM_011540051.1:c.4523C>G XP_011538353.1:p.Ala1508Gly
XM_011540052.1:c.851C>G XP_011538354.1:p.Ala284Gly
XM_011540053.1:c.4523C>G XP_011538355.1:p.Ala1508Gly
XR_945796.1:n.4766C>G
NM_022124.6:c.4328C>G MANE Select NP_071407.4:p.Ala1443Gly