Canonical Allele Identifier: CA377136235
Community Standard Title: NM_022124.6(CDH23):c.9381-2A>G
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71812478A>G , CM000672.2:g.71812478A>G GRCh38
NC_000010.10:g.73572235A>G , CM000672.1:g.73572235A>G GRCh37
NC_000010.9:g.73242241A>G NCBI36
NG_008835.1:g.420532A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9381-2A>G MANE Select NP_071407.4:n.9381-2A>G
ENST00000224721.12:c.9381-2A>G MANE Select ENSP00000224721.9:n.9381-2A>G
NM_001171933.1:c.2661-2A>G NP_001165404.1:n.2661-2A>G
NM_001171934.1:c.2661-2A>G NP_001165405.1:n.2661-2A>G
NM_001171935.1:c.72-2A>G NP_001165406.1:n.72-2A>G
NM_001171936.1:c.72-2A>G NP_001165407.1:n.72-2A>G
NM_022124.5:c.9381-2A>G NP_071407.4:n.9381-2A>G
ENST00000224721.10:c.9396-2A>G ENSP00000224721.8:n.9396-2A>G
ENST00000398788.4:c.2661-2A>G ENSP00000381768.3:n.2661-2A>G
ENST00000475158.1:n.2917-2A>G
ENST00000619887.4:c.2661-2A>G ENSP00000478374.1:n.2661-2A>G
ENST00000622827.4:c.9381-2A>G ENSP00000483211.1:n.9381-2A>G
ENST00000642965.1:c.3314-2A>G ENSP00000495222.1:n.3314-2A>G
ENST00000647092.1:c.2978-2A>G ENSP00000495176.1:n.2978-2A>G
XM_006717940.2:c.9576-2A>G XP_006718003.1:n.9576-2A>G
XM_006717942.2:c.9510-2A>G XP_006718005.1:n.9510-2A>G
XM_011540039.1:c.9573-2A>G XP_011538341.1:n.9573-2A>G
XM_011540040.1:c.9570-2A>G XP_011538342.1:n.9570-2A>G
XM_011540041.1:c.9516-2A>G XP_011538343.1:n.9516-2A>G
XM_011540042.1:c.9486-2A>G XP_011538344.1:n.9486-2A>G
XM_011540043.1:c.9576-2A>G XP_011538345.1:n.9576-2A>G
XM_011540044.1:c.9441-2A>G XP_011538346.1:n.9441-2A>G
XM_011540045.1:c.9576-2A>G XP_011538347.1:n.9576-2A>G
XM_011540046.1:c.9036-2A>G XP_011538348.1:n.9036-2A>G
XM_011540047.1:c.8394-2A>G XP_011538349.1:n.8394-2A>G
XM_011540052.1:c.5904-2A>G XP_011538354.1:n.5904-2A>G