Canonical Allele Identifier: CA377146442
Community Standard Title: NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71784923C>A , CM000672.2:g.71784923C>A GRCh38
NC_000010.10:g.73544680C>A , CM000672.1:g.73544680C>A GRCh37
NC_000010.9:g.73214686C>A NCBI36
NG_008835.1:g.392977C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.5535C>A MANE Select NP_071407.4:p.Asn1845Lys
ENST00000224721.12:c.5535C>A MANE Select ENSP00000224721.9:p.Asn1845Lys
NM_022124.5:c.5535C>A NP_071407.4:p.Asn1845Lys
ENST00000224721.10:c.5550C>A ENSP00000224721.8:p.Asn1850Lys
ENST00000622827.4:c.5535C>A ENSP00000483211.1:p.Asn1845Lys
XM_006717940.2:c.5730C>A XP_006718003.1:p.Asn1910Lys
XM_006717942.2:c.5664C>A XP_006718005.1:p.Asn1888Lys
XM_011540039.1:c.5727C>A XP_011538341.1:p.Asn1909Lys
XM_011540040.1:c.5724C>A XP_011538342.1:p.Asn1908Lys
XM_011540041.1:c.5670C>A XP_011538343.1:p.Asn1890Lys
XM_011540042.1:c.5730C>A XP_011538344.1:p.Asn1910Lys
XM_011540043.1:c.5730C>A XP_011538345.1:p.Asn1910Lys
XM_011540044.1:c.5595C>A XP_011538346.1:p.Asn1865Lys
XM_011540045.1:c.5730C>A XP_011538347.1:p.Asn1910Lys
XM_011540046.1:c.5190C>A XP_011538348.1:p.Asn1730Lys
XM_011540047.1:c.4548C>A XP_011538349.1:p.Asn1516Lys
XM_011540048.1:c.5730C>A XP_011538350.1:p.Asn1910Lys
XM_011540049.1:c.5730C>A XP_011538351.1:p.Asn1910Lys
XM_011540050.1:c.5730C>A XP_011538352.1:p.Asn1910Lys
XM_011540051.1:c.5730C>A XP_011538353.1:p.Asn1910Lys
XM_011540052.1:c.2058C>A XP_011538354.1:p.Asn686Lys
XM_011540053.1:c.5730C>A XP_011538355.1:p.Asn1910Lys
XR_945796.1:n.5973C>A