Canonical Allele Identifier: CA377135518
Community Standard Title: NM_022124.6(CDH23):c.9278+2T>A
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71811592T>A , CM000672.2:g.71811592T>A GRCh38
NC_000010.10:g.73571349T>A , CM000672.1:g.73571349T>A GRCh37
NC_000010.9:g.73241355T>A NCBI36
NG_008835.1:g.419646T>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9278+2T>A MANE Select NP_071407.4:n.9278+2T>A
ENST00000224721.12:c.9278+2T>A MANE Select ENSP00000224721.9:n.9278+2T>A
NM_001171933.1:c.2558+2T>A NP_001165404.1:n.2558+2T>A
NM_001171934.1:c.2558+2T>A NP_001165405.1:n.2558+2T>A
NM_022124.5:c.9278+2T>A NP_071407.4:n.9278+2T>A
ENST00000224721.10:c.9293+2T>A ENSP00000224721.8:n.9293+2T>A
ENST00000398788.4:c.2558+2T>A ENSP00000381768.3:n.2558+2T>A
ENST00000475158.1:n.2814+2T>A
ENST00000619887.4:c.2558+2T>A ENSP00000478374.1:n.2558+2T>A
ENST00000622827.4:c.9278+2T>A ENSP00000483211.1:n.9278+2T>A
ENST00000642965.1:c.3211+2T>A ENSP00000495222.1:n.3211+2T>A
ENST00000647092.1:c.2875+2T>A ENSP00000495176.1:n.2875+2T>A
XM_006717940.2:c.9473+2T>A XP_006718003.1:n.9473+2T>A
XM_006717942.2:c.9407+2T>A XP_006718005.1:n.9407+2T>A
XM_011540039.1:c.9470+2T>A XP_011538341.1:n.9470+2T>A
XM_011540040.1:c.9467+2T>A XP_011538342.1:n.9467+2T>A
XM_011540041.1:c.9413+2T>A XP_011538343.1:n.9413+2T>A
XM_011540042.1:c.9383+2T>A XP_011538344.1:n.9383+2T>A
XM_011540043.1:c.9473+2T>A XP_011538345.1:n.9473+2T>A
XM_011540044.1:c.9338+2T>A XP_011538346.1:n.9338+2T>A
XM_011540045.1:c.9473+2T>A XP_011538347.1:n.9473+2T>A
XM_011540046.1:c.8933+2T>A XP_011538348.1:n.8933+2T>A
XM_011540047.1:c.8291+2T>A XP_011538349.1:n.8291+2T>A
XM_011540052.1:c.5801+2T>A XP_011538354.1:n.5801+2T>A