Canonical Allele Identifier: CA389862718
Gene: KIAA0586 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58444094T>A , CM000676.2:g.58444094T>A GRCh38
NC_000014.8:g.58910812T>A , CM000676.1:g.58910812T>A GRCh37
NC_000014.7:g.57980565T>A NCBI36
NG_051335.2:g.21710T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555203.6:n.416T>A
ENST00000619722.5:c.471T>A ENSP00000481936.1:p.Asp157Glu
ENST00000650845.1:n.1272T>A
ENST00000650904.1:c.726T>A ENSP00000498606.1:p.Asp242Glu
ENST00000651937.1:c.681T>A ENSP00000498785.1:p.Asp227Glu
ENST00000652120.1:n.632T>A
ENST00000652326.2:c.726T>A MANE Select ENSP00000498929.1:p.Asp242Glu
ENST00000652732.1:c.*292T>A ENSP00000498799.1:n.*292T>A
ENST00000674802.1:n.958T>A
ENST00000261244.9:c.726T>A ENSP00000261244.5:p.Asp242Glu
ENST00000354386.10:c.885T>A ENSP00000346359.6:p.Asp295Glu
ENST00000423743.7:c.594T>A ENSP00000399427.3:p.Asp198Glu
ENST00000538571.6:n.316T>A
ENST00000555833.5:c.471T>A ENSP00000450855.1:p.Asp157Glu
ENST00000556134.5:c.594T>A ENSP00000452351.2:p.Asp198Glu
ENST00000619416.4:c.681T>A ENSP00000478083.1:p.Asp227Glu
ENST00000619722.4:c.471T>A ENSP00000481936.1:p.Asp157Glu
NM_001244189.1:c.885T>A NP_001231118.1:p.Asp295Glu
NM_001244190.1:c.681T>A NP_001231119.1:p.Asp227Glu
NM_001244191.1:c.471T>A NP_001231120.1:p.Asp157Glu
NM_001244192.1:c.594T>A NP_001231121.1:p.Asp198Glu
NM_001244193.1:c.306T>A NP_001231122.1:p.Asp102Glu
NM_014749.3:c.726T>A NP_055564.3:p.Asp242Glu
NM_001329943.2:c.726T>A NP_001316872.1:p.Asp242Glu
NM_001329944.1:c.726T>A NP_001316873.1:p.Asp242Glu
NM_001329945.1:c.471T>A NP_001316874.1:p.Asp157Glu
NM_001329946.1:c.726T>A NP_001316875.1:p.Asp242Glu
NM_001329947.1:c.726T>A NP_001316876.1:p.Asp242Glu
NM_001364700.1:c.471T>A NP_001351629.1:p.Asp157Glu
NM_001364701.1:c.471T>A NP_001351630.1:p.Asp157Glu
NM_014749.4:c.726T>A NP_055564.3:p.Asp242Glu
XM_024449779.1:c.849T>A XP_024305547.1:p.Asp283Glu
XM_024449780.1:c.726T>A XP_024305548.1:p.Asp242Glu
XM_024449781.1:c.849T>A XP_024305549.1:p.Asp283Glu
XM_024449782.1:c.471T>A XP_024305550.1:p.Asp157Glu
XM_024449783.1:c.471T>A XP_024305551.1:p.Asp157Glu
XM_024449784.1:c.471T>A XP_024305552.1:p.Asp157Glu
XM_024449785.1:c.471T>A XP_024305553.1:p.Asp157Glu
XM_024449787.1:c.330T>A XP_024305555.1:p.Asp110Glu
XM_024449788.1:c.306T>A XP_024305556.1:p.Asp102Glu
XM_024449789.1:c.306T>A XP_024305557.1:p.Asp102Glu
XM_024449791.1:c.726T>A XP_024305559.1:p.Asp242Glu
NM_001244189.2:c.885T>A NP_001231118.1:p.Asp295Glu
NM_001244190.2:c.681T>A NP_001231119.1:p.Asp227Glu
NM_001244192.2:c.594T>A NP_001231121.1:p.Asp198Glu
NM_001329943.3:c.726T>A MANE Select NP_001316872.1:p.Asp242Glu
NM_001329944.2:c.726T>A NP_001316873.1:p.Asp242Glu
NM_001329945.2:c.471T>A NP_001316874.1:p.Asp157Glu
NM_001329946.2:c.726T>A NP_001316875.1:p.Asp242Glu
NM_001329947.2:c.726T>A NP_001316876.1:p.Asp242Glu
NM_001364701.2:c.471T>A NP_001351630.1:p.Asp157Glu
NM_014749.5:c.726T>A NP_055564.3:p.Asp242Glu
NM_001244191.2:c.471T>A NP_001231120.1:p.Asp157Glu
NM_001244193.2:c.306T>A NP_001231122.1:p.Asp102Glu