Canonical Allele Identifier: CA377131499
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71807623T>G , CM000672.2:g.71807623T>G GRCh38
NC_000010.10:g.73567380T>G , CM000672.1:g.73567380T>G GRCh37
NC_000010.9:g.73237386T>G NCBI36
NG_008835.1:g.415677T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8416T>G MANE Select ENSP00000224721.9:p.Ser2806Ala
ENST00000642965.1:c.2349T>G ENSP00000495222.1:n.2349T>G
ENST00000647092.1:c.2013T>G ENSP00000495176.1:n.2013T>G
ENST00000224721.10:c.8431T>G ENSP00000224721.8:p.Ser2811Ala
ENST00000398788.4:c.1696T>G ENSP00000381768.3:p.Ser566Ala
ENST00000475158.1:n.1952T>G
ENST00000619887.4:c.1696T>G ENSP00000478374.1:p.Ser566Ala
ENST00000622827.4:c.8416T>G ENSP00000483211.1:p.Ser2806Ala
NM_001171933.1:c.1696T>G NP_001165404.1:p.Ser566Ala
NM_001171934.1:c.1696T>G NP_001165405.1:p.Ser566Ala
NM_022124.5:c.8416T>G NP_071407.4:p.Ser2806Ala
XM_006717940.2:c.8611T>G XP_006718003.1:p.Ser2871Ala
XM_006717942.2:c.8545T>G XP_006718005.1:p.Ser2849Ala
XM_011540039.1:c.8608T>G XP_011538341.1:p.Ser2870Ala
XM_011540040.1:c.8605T>G XP_011538342.1:p.Ser2869Ala
XM_011540041.1:c.8551T>G XP_011538343.1:p.Ser2851Ala
XM_011540042.1:c.8521T>G XP_011538344.1:p.Ser2841Ala
XM_011540043.1:c.8611T>G XP_011538345.1:p.Ser2871Ala
XM_011540044.1:c.8476T>G XP_011538346.1:p.Ser2826Ala
XM_011540045.1:c.8611T>G XP_011538347.1:p.Ser2871Ala
XM_011540046.1:c.8071T>G XP_011538348.1:p.Ser2691Ala
XM_011540047.1:c.7429T>G XP_011538349.1:p.Ser2477Ala
XM_011540052.1:c.4939T>G XP_011538354.1:p.Ser1647Ala
NM_022124.6:c.8416T>G MANE Select NP_071407.4:p.Ser2806Ala