Canonical Allele Identifier: CA377135024
Community Standard Title: NM_022124.6(CDH23):c.9198+2T>A
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71811437T>A , CM000672.2:g.71811437T>A GRCh38
NC_000010.10:g.73571194T>A , CM000672.1:g.73571194T>A GRCh37
NC_000010.9:g.73241200T>A NCBI36
NG_008835.1:g.419491T>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.9198+2T>A MANE Select NP_071407.4:n.9198+2T>A
ENST00000224721.12:c.9198+2T>A MANE Select ENSP00000224721.9:n.9198+2T>A
NM_001171933.1:c.2478+2T>A NP_001165404.1:n.2478+2T>A
NM_001171934.1:c.2478+2T>A NP_001165405.1:n.2478+2T>A
NM_022124.5:c.9198+2T>A NP_071407.4:n.9198+2T>A
ENST00000224721.10:c.9213+2T>A ENSP00000224721.8:n.9213+2T>A
ENST00000398788.4:c.2478+2T>A ENSP00000381768.3:n.2478+2T>A
ENST00000475158.1:n.2734+2T>A
ENST00000619887.4:c.2478+2T>A ENSP00000478374.1:n.2478+2T>A
ENST00000622827.4:c.9198+2T>A ENSP00000483211.1:n.9198+2T>A
ENST00000642965.1:c.3131+2T>A ENSP00000495222.1:n.3131+2T>A
ENST00000647092.1:c.2795+2T>A ENSP00000495176.1:n.2795+2T>A
XM_006717940.2:c.9393+2T>A XP_006718003.1:n.9393+2T>A
XM_006717942.2:c.9327+2T>A XP_006718005.1:n.9327+2T>A
XM_011540039.1:c.9390+2T>A XP_011538341.1:n.9390+2T>A
XM_011540040.1:c.9387+2T>A XP_011538342.1:n.9387+2T>A
XM_011540041.1:c.9333+2T>A XP_011538343.1:n.9333+2T>A
XM_011540042.1:c.9303+2T>A XP_011538344.1:n.9303+2T>A
XM_011540043.1:c.9393+2T>A XP_011538345.1:n.9393+2T>A
XM_011540044.1:c.9258+2T>A XP_011538346.1:n.9258+2T>A
XM_011540045.1:c.9393+2T>A XP_011538347.1:n.9393+2T>A
XM_011540046.1:c.8853+2T>A XP_011538348.1:n.8853+2T>A
XM_011540047.1:c.8211+2T>A XP_011538349.1:n.8211+2T>A
XM_011540052.1:c.5721+2T>A XP_011538354.1:n.5721+2T>A