Canonical Allele Identifier: CA377162335
Gene: CDH23 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71806196A>T , CM000672.2:g.71806196A>T GRCh38
NC_000010.10:g.73565953A>T , CM000672.1:g.73565953A>T GRCh37
NC_000010.9:g.73235959A>T NCBI36
NG_008835.1:g.414250A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.8093A>T MANE Select ENSP00000224721.9:p.Gln2698Leu
ENST00000642965.1:c.2026A>T ENSP00000495222.1:n.2026A>T
ENST00000647092.1:c.1690A>T ENSP00000495176.1:n.1690A>T
ENST00000224721.10:c.8108A>T ENSP00000224721.8:p.Gln2703Leu
ENST00000398788.4:c.1373A>T ENSP00000381768.3:p.Gln458Leu
ENST00000475158.1:n.1629A>T
ENST00000619887.4:c.1373A>T ENSP00000478374.1:p.Gln458Leu
ENST00000622827.4:c.8093A>T ENSP00000483211.1:p.Gln2698Leu
NM_001171933.1:c.1373A>T NP_001165404.1:p.Gln458Leu
NM_001171934.1:c.1373A>T NP_001165405.1:p.Gln458Leu
NM_022124.5:c.8093A>T NP_071407.4:p.Gln2698Leu
XM_006717940.2:c.8288A>T XP_006718003.1:p.Gln2763Leu
XM_006717942.2:c.8222A>T XP_006718005.1:p.Gln2741Leu
XM_011540039.1:c.8285A>T XP_011538341.1:p.Gln2762Leu
XM_011540040.1:c.8282A>T XP_011538342.1:p.Gln2761Leu
XM_011540041.1:c.8228A>T XP_011538343.1:p.Gln2743Leu
XM_011540042.1:c.8198A>T XP_011538344.1:p.Gln2733Leu
XM_011540043.1:c.8288A>T XP_011538345.1:p.Gln2763Leu
XM_011540044.1:c.8153A>T XP_011538346.1:p.Gln2718Leu
XM_011540045.1:c.8288A>T XP_011538347.1:p.Gln2763Leu
XM_011540046.1:c.7748A>T XP_011538348.1:p.Gln2583Leu
XM_011540047.1:c.7106A>T XP_011538349.1:p.Gln2369Leu
XM_011540052.1:c.4616A>T XP_011538354.1:p.Gln1539Leu
NM_022124.6:c.8093A>T MANE Select NP_071407.4:p.Gln2698Leu