Canonical Allele Identifier: CA5544409
Community Standard Title: NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71706911G>A , CM000672.2:g.71706911G>A GRCh38
NC_000010.10:g.73466668G>A , CM000672.1:g.73466668G>A GRCh37
NC_000010.9:g.73136674G>A NCBI36
NG_008835.1:g.314965G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.2968G>A MANE Select NP_071407.4:p.Asp990Asn
ENST00000224721.12:c.2968G>A MANE Select ENSP00000224721.9:p.Asp990Asn
NM_001171930.1:c.2968G>A NP_001165401.1:p.Asp990Asn
NM_001171930.2:c.2968G>A NP_001165401.1:p.Asp990Asn
NM_001171931.1:c.2968G>A NP_001165402.1:p.Asp990Asn
NM_001171931.2:c.2968G>A NP_001165402.1:p.Asp990Asn
NM_022124.5:c.2968G>A NP_071407.4:p.Asp990Asn
ENST00000224721.10:c.2983G>A ENSP00000224721.8:p.Asp995Asn
ENST00000299366.11:c.2968G>A ENSP00000299366.8:p.Asp990Asn
ENST00000398809.8:c.2968G>A ENSP00000381789.5:p.Asp990Asn
ENST00000398809.9:c.2968G>A ENSP00000381789.5:p.Asp990Asn
ENST00000442677.3:c.1743G>A
ENST00000442677.4:c.2968G>A ENSP00000388894.3:p.Asp990Asn
ENST00000466757.7:c.2399G>A
ENST00000466757.8:c.2399G>A
ENST00000616684.4:c.2968G>A ENSP00000482036.2:p.Asp990Asn
ENST00000622827.4:c.2968G>A ENSP00000483211.1:p.Asp990Asn
XM_006717940.2:c.3163G>A XP_006718003.1:p.Asp1055Asn
XM_006717942.2:c.3097G>A XP_006718005.1:p.Asp1033Asn
XM_011540039.1:c.3163G>A XP_011538341.1:p.Asp1055Asn
XM_011540040.1:c.3157G>A XP_011538342.1:p.Asp1053Asn
XM_011540041.1:c.3103G>A XP_011538343.1:p.Asp1035Asn
XM_011540042.1:c.3163G>A XP_011538344.1:p.Asp1055Asn
XM_011540043.1:c.3163G>A XP_011538345.1:p.Asp1055Asn
XM_011540044.1:c.3028G>A XP_011538346.1:p.Asp1010Asn
XM_011540045.1:c.3163G>A XP_011538347.1:p.Asp1055Asn
XM_011540046.1:c.2623G>A XP_011538348.1:p.Asp875Asn
XM_011540047.1:c.1981G>A XP_011538349.1:p.Asp661Asn
XM_011540048.1:c.3163G>A XP_011538350.1:p.Asp1055Asn
XM_011540049.1:c.3163G>A XP_011538351.1:p.Asp1055Asn
XM_011540050.1:c.3163G>A XP_011538352.1:p.Asp1055Asn
XM_011540051.1:c.3163G>A XP_011538353.1:p.Asp1055Asn
XM_011540053.1:c.3163G>A XP_011538355.1:p.Asp1055Asn
XM_011540054.1:c.3103G>A XP_011538356.1:p.Asp1035Asn
XR_945796.1:n.3406G>A
XR_946052.1:n.82+2095C>T