Canonical Allele Identifier: CA377131481
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807613C>G , CM000672.2:g.71807613C>G GRCh38
NC_000010.10:g.73567370C>G , CM000672.1:g.73567370C>G GRCh37
NC_000010.9:g.73237376C>G NCBI36
NG_008835.1:g.415667C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8406C>G MANE Select ENSP00000224721.9:p.Ile2802Met
ENST00000642965.1:c.2339C>G ENSP00000495222.1:n.2339C>G
ENST00000647092.1:c.2003C>G ENSP00000495176.1:n.2003C>G
ENST00000224721.10:c.8421C>G ENSP00000224721.8:p.Ile2807Met
ENST00000398788.4:c.1686C>G ENSP00000381768.3:p.Ile562Met
ENST00000475158.1:n.1942C>G
ENST00000619887.4:c.1686C>G ENSP00000478374.1:p.Ile562Met
ENST00000622827.4:c.8406C>G ENSP00000483211.1:p.Ile2802Met
NM_001171933.1:c.1686C>G NP_001165404.1:p.Ile562Met
NM_001171934.1:c.1686C>G NP_001165405.1:p.Ile562Met
NM_022124.5:c.8406C>G NP_071407.4:p.Ile2802Met
XM_006717940.2:c.8601C>G XP_006718003.1:p.Ile2867Met
XM_006717942.2:c.8535C>G XP_006718005.1:p.Ile2845Met
XM_011540039.1:c.8598C>G XP_011538341.1:p.Ile2866Met
XM_011540040.1:c.8595C>G XP_011538342.1:p.Ile2865Met
XM_011540041.1:c.8541C>G XP_011538343.1:p.Ile2847Met
XM_011540042.1:c.8511C>G XP_011538344.1:p.Ile2837Met
XM_011540043.1:c.8601C>G XP_011538345.1:p.Ile2867Met
XM_011540044.1:c.8466C>G XP_011538346.1:p.Ile2822Met
XM_011540045.1:c.8601C>G XP_011538347.1:p.Ile2867Met
XM_011540046.1:c.8061C>G XP_011538348.1:p.Ile2687Met
XM_011540047.1:c.7419C>G XP_011538349.1:p.Ile2473Met
XM_011540052.1:c.4929C>G XP_011538354.1:p.Ile1643Met
NM_022124.6:c.8406C>G MANE Select NP_071407.4:p.Ile2802Met