Canonical Allele Identifier: CA10581675
Community Standard Title: NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71805841C>G , CM000672.2:g.71805841C>G GRCh38
NC_000010.10:g.73565598C>G , CM000672.1:g.73565598C>G GRCh37
NC_000010.9:g.73235604C>G NCBI36
NG_008835.1:g.413895C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.7908C>G MANE Select NP_071407.4:p.Tyr2636Ter
ENST00000224721.12:c.7908C>G MANE Select ENSP00000224721.9:p.Tyr2636Ter
NM_001171933.1:c.1188C>G NP_001165404.1:p.Tyr396Ter
NM_001171934.1:c.1188C>G NP_001165405.1:p.Tyr396Ter
NM_022124.5:c.7908C>G NP_071407.4:p.Tyr2636Ter
ENST00000224721.10:c.7923C>G ENSP00000224721.8:p.Tyr2641Ter
ENST00000398788.4:c.1188C>G ENSP00000381768.3:p.Tyr396Ter
ENST00000475158.1:n.1444C>G
ENST00000619887.4:c.1188C>G ENSP00000478374.1:p.Tyr396Ter
ENST00000622827.4:c.7908C>G ENSP00000483211.1:p.Tyr2636Ter
ENST00000642965.1:c.1841C>G ENSP00000495222.1:n.1841C>G
ENST00000647092.1:c.1505C>G ENSP00000495176.1:n.1505C>G
XM_006717940.2:c.8103C>G XP_006718003.1:p.Tyr2701Ter
XM_006717942.2:c.8037C>G XP_006718005.1:p.Tyr2679Ter
XM_011540039.1:c.8100C>G XP_011538341.1:p.Tyr2700Ter
XM_011540040.1:c.8097C>G XP_011538342.1:p.Tyr2699Ter
XM_011540041.1:c.8043C>G XP_011538343.1:p.Tyr2681Ter
XM_011540042.1:c.8013C>G XP_011538344.1:p.Tyr2671Ter
XM_011540043.1:c.8103C>G XP_011538345.1:p.Tyr2701Ter
XM_011540044.1:c.7968C>G XP_011538346.1:p.Tyr2656Ter
XM_011540045.1:c.8103C>G XP_011538347.1:p.Tyr2701Ter
XM_011540046.1:c.7563C>G XP_011538348.1:p.Tyr2521Ter
XM_011540047.1:c.6921C>G XP_011538349.1:p.Tyr2307Ter
XM_011540052.1:c.4431C>G XP_011538354.1:p.Tyr1477Ter