Canonical Allele Identifier: CA377138355
Community Standard Title: NM_022124.6(CDH23):c.9886G>T (p.Asp3296Tyr)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71815099G>T , CM000672.2:g.71815099G>T GRCh38
NC_000010.10:g.73574856G>T , CM000672.1:g.73574856G>T GRCh37
NC_000010.9:g.73244862G>T NCBI36
NG_008835.1:g.423153G>T
NG_009301.1:g.41227C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9886G>T MANE Select NP_071407.4:p.Asp3296Tyr
ENST00000224721.12:c.9886G>T MANE Select ENSP00000224721.9:p.Asp3296Tyr
NM_001171933.1:c.3166G>T NP_001165404.1:p.Asp1056Tyr
NM_001171934.1:c.3061G>T NP_001165405.1:p.Asp1021Tyr
NM_001171935.1:c.577G>T NP_001165406.1:p.Asp193Tyr
NM_001171936.1:c.472G>T NP_001165407.1:p.Asp158Tyr
NM_022124.5:c.9886G>T NP_071407.4:p.Asp3296Tyr
ENST00000224721.10:c.9901G>T ENSP00000224721.8:p.Asp3301Tyr
ENST00000398788.4:c.3166G>T ENSP00000381768.3:p.Asp1056Tyr
ENST00000475158.1:n.3317G>T
ENST00000619887.4:c.3061G>T ENSP00000478374.1:p.Asp1021Tyr
ENST00000622827.4:c.9886G>T ENSP00000483211.1:p.Asp3296Tyr
ENST00000642965.1:c.3819G>T ENSP00000495222.1:n.3819G>T
ENST00000647092.1:c.3378G>T ENSP00000495176.1:n.3378G>T
XM_006717940.2:c.10081G>T XP_006718003.1:p.Asp3361Tyr
XM_006717942.2:c.10015G>T XP_006718005.1:p.Asp3339Tyr
XM_011540039.1:c.10078G>T XP_011538341.1:p.Asp3360Tyr
XM_011540040.1:c.10075G>T XP_011538342.1:p.Asp3359Tyr
XM_011540041.1:c.10021G>T XP_011538343.1:p.Asp3341Tyr
XM_011540042.1:c.9991G>T XP_011538344.1:p.Asp3331Tyr
XM_011540043.1:c.9976G>T XP_011538345.1:p.Asp3326Tyr
XM_011540044.1:c.9946G>T XP_011538346.1:p.Asp3316Tyr
XM_011540046.1:c.9541G>T XP_011538348.1:p.Asp3181Tyr
XM_011540047.1:c.8899G>T XP_011538349.1:p.Asp2967Tyr
XM_011540052.1:c.6409G>T XP_011538354.1:p.Asp2137Tyr