Canonical Allele Identifier: CA377158468
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798559G>T , CM000672.2:g.71798559G>T GRCh38
NC_000010.10:g.73558316G>T , CM000672.1:g.73558316G>T GRCh37
NC_000010.9:g.73228322G>T NCBI36
NG_008835.1:g.406613G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7035G>T MANE Select ENSP00000224721.9:p.Gln2345His
ENST00000642965.1:c.968G>T ENSP00000495222.1:n.968G>T
ENST00000647092.1:c.632G>T ENSP00000495176.1:n.632G>T
ENST00000224721.10:c.7050G>T ENSP00000224721.8:p.Gln2350His
ENST00000398788.4:c.315G>T ENSP00000381768.3:p.Gln105His
ENST00000475158.1:n.571G>T
ENST00000619887.4:c.315G>T ENSP00000478374.1:p.Gln105His
ENST00000622827.4:c.7035G>T ENSP00000483211.1:p.Gln2345His
NM_001171933.1:c.315G>T NP_001165404.1:p.Gln105His
NM_001171934.1:c.315G>T NP_001165405.1:p.Gln105His
NM_022124.5:c.7035G>T NP_071407.4:p.Gln2345His
XM_006717940.2:c.7230G>T XP_006718003.1:p.Gln2410His
XM_006717942.2:c.7164G>T XP_006718005.1:p.Gln2388His
XM_011540039.1:c.7227G>T XP_011538341.1:p.Gln2409His
XM_011540040.1:c.7224G>T XP_011538342.1:p.Gln2408His
XM_011540041.1:c.7170G>T XP_011538343.1:p.Gln2390His
XM_011540042.1:c.7140G>T XP_011538344.1:p.Gln2380His
XM_011540043.1:c.7230G>T XP_011538345.1:p.Gln2410His
XM_011540044.1:c.7095G>T XP_011538346.1:p.Gln2365His
XM_011540045.1:c.7230G>T XP_011538347.1:p.Gln2410His
XM_011540046.1:c.6690G>T XP_011538348.1:p.Gln2230His
XM_011540047.1:c.6048G>T XP_011538349.1:p.Gln2016His
XM_011540052.1:c.3558G>T XP_011538354.1:p.Gln1186His
NM_022124.6:c.7035G>T MANE Select NP_071407.4:p.Gln2345His