Canonical Allele Identifier: CA389874977
Gene: KIAA0586 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58467752A>C , CM000676.2:g.58467752A>C GRCh38
NC_000014.8:g.58934470A>C , CM000676.1:g.58934470A>C GRCh37
NC_000014.7:g.58004223A>C NCBI36
NG_051335.2:g.45368A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619722.5:c.2017A>C ENSP00000481936.1:p.Ser673Arg
ENST00000650845.1:n.2818A>C
ENST00000650904.1:c.2272A>C ENSP00000498606.1:p.Ser758Arg
ENST00000651759.1:c.1021A>C ENSP00000498415.1:p.Ser341Arg
ENST00000651937.1:c.*353A>C ENSP00000498785.1:n.*353A>C
ENST00000652326.2:c.2272A>C MANE Select ENSP00000498929.1:p.Ser758Arg
ENST00000652414.1:c.376A>C ENSP00000498397.1:p.Ser126Arg
ENST00000652732.1:c.*1838A>C ENSP00000498799.1:n.*1838A>C
ENST00000261244.9:c.2044A>C ENSP00000261244.5:p.Ser682Arg
ENST00000354386.10:c.2431A>C ENSP00000346359.6:p.Ser811Arg
ENST00000423743.7:c.2140A>C ENSP00000399427.3:p.Ser714Arg
ENST00000538571.6:n.1862A>C
ENST00000556134.5:c.2140A>C ENSP00000452351.2:p.Ser714Arg
ENST00000619416.4:c.2227A>C ENSP00000478083.1:p.Ser743Arg
ENST00000619722.4:c.2017A>C ENSP00000481936.1:p.Ser673Arg
NM_001244189.1:c.2431A>C NP_001231118.1:p.Ser811Arg
NM_001244190.1:c.2227A>C NP_001231119.1:p.Ser743Arg
NM_001244191.1:c.2017A>C NP_001231120.1:p.Ser673Arg
NM_001244192.1:c.2140A>C NP_001231121.1:p.Ser714Arg
NM_001244193.1:c.1852A>C NP_001231122.1:p.Ser618Arg
NM_014749.3:c.2044A>C NP_055564.3:p.Ser682Arg
NM_001329943.2:c.2272A>C NP_001316872.1:p.Ser758Arg
NM_001329944.1:c.2272A>C NP_001316873.1:p.Ser758Arg
NM_001329945.1:c.2017A>C NP_001316874.1:p.Ser673Arg
NM_001329946.1:c.2272A>C NP_001316875.1:p.Ser758Arg
NM_001329947.1:c.2272A>C NP_001316876.1:p.Ser758Arg
NM_001364700.1:c.2017A>C NP_001351629.1:p.Ser673Arg
NM_001364701.1:c.2017A>C NP_001351630.1:p.Ser673Arg
NM_014749.4:c.2044A>C NP_055564.3:p.Ser682Arg
XM_024449779.1:c.2395A>C XP_024305547.1:p.Ser799Arg
XM_024449780.1:c.2296A>C XP_024305548.1:p.Ser766Arg
XM_024449781.1:c.2395A>C XP_024305549.1:p.Ser799Arg
XM_024449782.1:c.2041A>C XP_024305550.1:p.Ser681Arg
XM_024449783.1:c.2041A>C XP_024305551.1:p.Ser681Arg
XM_024449784.1:c.2041A>C XP_024305552.1:p.Ser681Arg
XM_024449785.1:c.2017A>C XP_024305553.1:p.Ser673Arg
XM_024449787.1:c.1876A>C XP_024305555.1:p.Ser626Arg
XM_024449788.1:c.1852A>C XP_024305556.1:p.Ser618Arg
XM_024449789.1:c.1852A>C XP_024305557.1:p.Ser618Arg
XM_024449791.1:c.2296A>C XP_024305559.1:p.Ser766Arg
NM_001244189.2:c.2431A>C NP_001231118.1:p.Ser811Arg
NM_001244190.2:c.2227A>C NP_001231119.1:p.Ser743Arg
NM_001244192.2:c.2140A>C NP_001231121.1:p.Ser714Arg
NM_001329943.3:c.2272A>C MANE Select NP_001316872.1:p.Ser758Arg
NM_001329944.2:c.2272A>C NP_001316873.1:p.Ser758Arg
NM_001329945.2:c.2017A>C NP_001316874.1:p.Ser673Arg
NM_001329946.2:c.2272A>C NP_001316875.1:p.Ser758Arg
NM_001329947.2:c.2272A>C NP_001316876.1:p.Ser758Arg
NM_001364701.2:c.2017A>C NP_001351630.1:p.Ser673Arg
NM_014749.5:c.2044A>C NP_055564.3:p.Ser682Arg
NM_001244191.2:c.2017A>C NP_001231120.1:p.Ser673Arg
NM_001244193.2:c.1852A>C NP_001231122.1:p.Ser618Arg