Canonical Allele Identifier: CA377131490
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807619G>C , CM000672.2:g.71807619G>C GRCh38
NC_000010.10:g.73567376G>C , CM000672.1:g.73567376G>C GRCh37
NC_000010.9:g.73237382G>C NCBI36
NG_008835.1:g.415673G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8412G>C MANE Select ENSP00000224721.9:p.Lys2804Asn
ENST00000642965.1:c.2345G>C ENSP00000495222.1:n.2345G>C
ENST00000647092.1:c.2009G>C ENSP00000495176.1:n.2009G>C
ENST00000224721.10:c.8427G>C ENSP00000224721.8:p.Lys2809Asn
ENST00000398788.4:c.1692G>C ENSP00000381768.3:p.Lys564Asn
ENST00000475158.1:n.1948G>C
ENST00000619887.4:c.1692G>C ENSP00000478374.1:p.Lys564Asn
ENST00000622827.4:c.8412G>C ENSP00000483211.1:p.Lys2804Asn
NM_001171933.1:c.1692G>C NP_001165404.1:p.Lys564Asn
NM_001171934.1:c.1692G>C NP_001165405.1:p.Lys564Asn
NM_022124.5:c.8412G>C NP_071407.4:p.Lys2804Asn
XM_006717940.2:c.8607G>C XP_006718003.1:p.Lys2869Asn
XM_006717942.2:c.8541G>C XP_006718005.1:p.Lys2847Asn
XM_011540039.1:c.8604G>C XP_011538341.1:p.Lys2868Asn
XM_011540040.1:c.8601G>C XP_011538342.1:p.Lys2867Asn
XM_011540041.1:c.8547G>C XP_011538343.1:p.Lys2849Asn
XM_011540042.1:c.8517G>C XP_011538344.1:p.Lys2839Asn
XM_011540043.1:c.8607G>C XP_011538345.1:p.Lys2869Asn
XM_011540044.1:c.8472G>C XP_011538346.1:p.Lys2824Asn
XM_011540045.1:c.8607G>C XP_011538347.1:p.Lys2869Asn
XM_011540046.1:c.8067G>C XP_011538348.1:p.Lys2689Asn
XM_011540047.1:c.7425G>C XP_011538349.1:p.Lys2475Asn
XM_011540052.1:c.4935G>C XP_011538354.1:p.Lys1645Asn
NM_022124.6:c.8412G>C MANE Select NP_071407.4:p.Lys2804Asn