Canonical Allele Identifier: CA377160659
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71802985G>T , CM000672.2:g.71802985G>T GRCh38
NC_000010.10:g.73562742G>T , CM000672.1:g.73562742G>T GRCh37
NC_000010.9:g.73232748G>T NCBI36
NG_008835.1:g.411039G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.7570G>T MANE Select ENSP00000224721.9:p.Ala2524Ser
ENST00000642965.1:c.1503G>T ENSP00000495222.1:n.1503G>T
ENST00000647092.1:c.1167G>T ENSP00000495176.1:n.1167G>T
ENST00000224721.10:c.7585G>T ENSP00000224721.8:p.Ala2529Ser
ENST00000398788.4:c.850G>T ENSP00000381768.3:p.Ala284Ser
ENST00000475158.1:n.1106G>T
ENST00000619887.4:c.850G>T ENSP00000478374.1:p.Ala284Ser
ENST00000622827.4:c.7570G>T ENSP00000483211.1:p.Ala2524Ser
NM_001171933.1:c.850G>T NP_001165404.1:p.Ala284Ser
NM_001171934.1:c.850G>T NP_001165405.1:p.Ala284Ser
NM_022124.5:c.7570G>T NP_071407.4:p.Ala2524Ser
XM_006717940.2:c.7765G>T XP_006718003.1:p.Ala2589Ser
XM_006717942.2:c.7699G>T XP_006718005.1:p.Ala2567Ser
XM_011540039.1:c.7762G>T XP_011538341.1:p.Ala2588Ser
XM_011540040.1:c.7759G>T XP_011538342.1:p.Ala2587Ser
XM_011540041.1:c.7705G>T XP_011538343.1:p.Ala2569Ser
XM_011540042.1:c.7675G>T XP_011538344.1:p.Ala2559Ser
XM_011540043.1:c.7765G>T XP_011538345.1:p.Ala2589Ser
XM_011540044.1:c.7630G>T XP_011538346.1:p.Ala2544Ser
XM_011540045.1:c.7765G>T XP_011538347.1:p.Ala2589Ser
XM_011540046.1:c.7225G>T XP_011538348.1:p.Ala2409Ser
XM_011540047.1:c.6583G>T XP_011538349.1:p.Ala2195Ser
XM_011540052.1:c.4093G>T XP_011538354.1:p.Ala1365Ser
NM_022124.6:c.7570G>T MANE Select NP_071407.4:p.Ala2524Ser