Canonical Allele Identifier: CA377157693
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798378A>G , CM000672.2:g.71798378A>G GRCh38
NC_000010.10:g.73558135A>G , CM000672.1:g.73558135A>G GRCh37
NC_000010.9:g.73228141A>G NCBI36
NG_008835.1:g.406432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.6854A>G MANE Select ENSP00000224721.9:p.Asp2285Gly
ENST00000642965.1:c.787A>G ENSP00000495222.1:n.787A>G
ENST00000647092.1:c.451A>G ENSP00000495176.1:n.451A>G
ENST00000224721.10:c.6869A>G ENSP00000224721.8:p.Asp2290Gly
ENST00000398788.4:c.134A>G ENSP00000381768.3:p.Asp45Gly
ENST00000475158.1:n.390A>G
ENST00000619887.4:c.134A>G ENSP00000478374.1:p.Asp45Gly
ENST00000622827.4:c.6854A>G ENSP00000483211.1:p.Asp2285Gly
NM_001171933.1:c.134A>G NP_001165404.1:p.Asp45Gly
NM_001171934.1:c.134A>G NP_001165405.1:p.Asp45Gly
NM_022124.5:c.6854A>G NP_071407.4:p.Asp2285Gly
XM_006717940.2:c.7049A>G XP_006718003.1:p.Asp2350Gly
XM_006717942.2:c.6983A>G XP_006718005.1:p.Asp2328Gly
XM_011540039.1:c.7046A>G XP_011538341.1:p.Asp2349Gly
XM_011540040.1:c.7043A>G XP_011538342.1:p.Asp2348Gly
XM_011540041.1:c.6989A>G XP_011538343.1:p.Asp2330Gly
XM_011540042.1:c.6959A>G XP_011538344.1:p.Asp2320Gly
XM_011540043.1:c.7049A>G XP_011538345.1:p.Asp2350Gly
XM_011540044.1:c.6914A>G XP_011538346.1:p.Asp2305Gly
XM_011540045.1:c.7049A>G XP_011538347.1:p.Asp2350Gly
XM_011540046.1:c.6509A>G XP_011538348.1:p.Asp2170Gly
XM_011540047.1:c.5867A>G XP_011538349.1:p.Asp1956Gly
XM_011540052.1:c.3377A>G XP_011538354.1:p.Asp1126Gly
NM_022124.6:c.6854A>G MANE Select NP_071407.4:p.Asp2285Gly