Canonical Allele Identifier: CA377131496
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs2132989112

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807621C>G , CM000672.2:g.71807621C>G GRCh38
NC_000010.10:g.73567378C>G , CM000672.1:g.73567378C>G GRCh37
NC_000010.9:g.73237384C>G NCBI36
NG_008835.1:g.415675C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8414C>G MANE Select ENSP00000224721.9:p.Ala2805Gly
ENST00000642965.1:c.2347C>G ENSP00000495222.1:n.2347C>G
ENST00000647092.1:c.2011C>G ENSP00000495176.1:n.2011C>G
ENST00000224721.10:c.8429C>G ENSP00000224721.8:p.Ala2810Gly
ENST00000398788.4:c.1694C>G ENSP00000381768.3:p.Ala565Gly
ENST00000475158.1:n.1950C>G
ENST00000619887.4:c.1694C>G ENSP00000478374.1:p.Ala565Gly
ENST00000622827.4:c.8414C>G ENSP00000483211.1:p.Ala2805Gly
NM_001171933.1:c.1694C>G NP_001165404.1:p.Ala565Gly
NM_001171934.1:c.1694C>G NP_001165405.1:p.Ala565Gly
NM_022124.5:c.8414C>G NP_071407.4:p.Ala2805Gly
XM_006717940.2:c.8609C>G XP_006718003.1:p.Ala2870Gly
XM_006717942.2:c.8543C>G XP_006718005.1:p.Ala2848Gly
XM_011540039.1:c.8606C>G XP_011538341.1:p.Ala2869Gly
XM_011540040.1:c.8603C>G XP_011538342.1:p.Ala2868Gly
XM_011540041.1:c.8549C>G XP_011538343.1:p.Ala2850Gly
XM_011540042.1:c.8519C>G XP_011538344.1:p.Ala2840Gly
XM_011540043.1:c.8609C>G XP_011538345.1:p.Ala2870Gly
XM_011540044.1:c.8474C>G XP_011538346.1:p.Ala2825Gly
XM_011540045.1:c.8609C>G XP_011538347.1:p.Ala2870Gly
XM_011540046.1:c.8069C>G XP_011538348.1:p.Ala2690Gly
XM_011540047.1:c.7427C>G XP_011538349.1:p.Ala2476Gly
XM_011540052.1:c.4937C>G XP_011538354.1:p.Ala1646Gly
NM_022124.6:c.8414C>G MANE Select NP_071407.4:p.Ala2805Gly