Canonical Allele Identifier: CA377157767
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798398C>T , CM000672.2:g.71798398C>T GRCh38
NC_000010.10:g.73558155C>T , CM000672.1:g.73558155C>T GRCh37
NC_000010.9:g.73228161C>T NCBI36
NG_008835.1:g.406452C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.6874C>T MANE Select ENSP00000224721.9:p.Gln2292Ter
ENST00000642965.1:c.807C>T ENSP00000495222.1:n.807C>T
ENST00000647092.1:c.471C>T ENSP00000495176.1:n.471C>T
ENST00000224721.10:c.6889C>T ENSP00000224721.8:p.Gln2297Ter
ENST00000398788.4:c.154C>T ENSP00000381768.3:p.Gln52Ter
ENST00000475158.1:n.410C>T
ENST00000619887.4:c.154C>T ENSP00000478374.1:p.Gln52Ter
ENST00000622827.4:c.6874C>T ENSP00000483211.1:p.Gln2292Ter
NM_001171933.1:c.154C>T NP_001165404.1:p.Gln52Ter
NM_001171934.1:c.154C>T NP_001165405.1:p.Gln52Ter
NM_022124.5:c.6874C>T NP_071407.4:p.Gln2292Ter
XM_006717940.2:c.7069C>T XP_006718003.1:p.Gln2357Ter
XM_006717942.2:c.7003C>T XP_006718005.1:p.Gln2335Ter
XM_011540039.1:c.7066C>T XP_011538341.1:p.Gln2356Ter
XM_011540040.1:c.7063C>T XP_011538342.1:p.Gln2355Ter
XM_011540041.1:c.7009C>T XP_011538343.1:p.Gln2337Ter
XM_011540042.1:c.6979C>T XP_011538344.1:p.Gln2327Ter
XM_011540043.1:c.7069C>T XP_011538345.1:p.Gln2357Ter
XM_011540044.1:c.6934C>T XP_011538346.1:p.Gln2312Ter
XM_011540045.1:c.7069C>T XP_011538347.1:p.Gln2357Ter
XM_011540046.1:c.6529C>T XP_011538348.1:p.Gln2177Ter
XM_011540047.1:c.5887C>T XP_011538349.1:p.Gln1963Ter
XM_011540052.1:c.3397C>T XP_011538354.1:p.Gln1133Ter
NM_022124.6:c.6874C>T MANE Select NP_071407.4:p.Gln2292Ter