Canonical Allele Identifier: CA389875203
Gene: KIAA0586 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58467813C>G , CM000676.2:g.58467813C>G GRCh38
NC_000014.8:g.58934531C>G , CM000676.1:g.58934531C>G GRCh37
NC_000014.7:g.58004284C>G NCBI36
NG_051335.2:g.45429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619722.5:c.2078C>G ENSP00000481936.1:p.Thr693Ser
ENST00000650845.1:n.2879C>G
ENST00000650904.1:c.2333C>G ENSP00000498606.1:p.Thr778Ser
ENST00000651759.1:c.1082C>G ENSP00000498415.1:p.Thr361Ser
ENST00000651937.1:c.*414C>G ENSP00000498785.1:n.*414C>G
ENST00000652326.2:c.2333C>G MANE Select ENSP00000498929.1:p.Thr778Ser
ENST00000652414.1:c.437C>G ENSP00000498397.1:p.Thr146Ser
ENST00000652732.1:c.*1899C>G ENSP00000498799.1:n.*1899C>G
ENST00000261244.9:c.2105C>G ENSP00000261244.5:p.Thr702Ser
ENST00000354386.10:c.2492C>G ENSP00000346359.6:p.Thr831Ser
ENST00000423743.7:c.2201C>G ENSP00000399427.3:p.Thr734Ser
ENST00000538571.6:n.1923C>G
ENST00000556134.5:c.2201C>G ENSP00000452351.2:p.Thr734Ser
ENST00000619416.4:c.2288C>G ENSP00000478083.1:p.Thr763Ser
ENST00000619722.4:c.2078C>G ENSP00000481936.1:p.Thr693Ser
NM_001244189.1:c.2492C>G NP_001231118.1:p.Thr831Ser
NM_001244190.1:c.2288C>G NP_001231119.1:p.Thr763Ser
NM_001244191.1:c.2078C>G NP_001231120.1:p.Thr693Ser
NM_001244192.1:c.2201C>G NP_001231121.1:p.Thr734Ser
NM_001244193.1:c.1913C>G NP_001231122.1:p.Thr638Ser
NM_014749.3:c.2105C>G NP_055564.3:p.Thr702Ser
NM_001329943.2:c.2333C>G NP_001316872.1:p.Thr778Ser
NM_001329944.1:c.2333C>G NP_001316873.1:p.Thr778Ser
NM_001329945.1:c.2078C>G NP_001316874.1:p.Thr693Ser
NM_001329946.1:c.2333C>G NP_001316875.1:p.Thr778Ser
NM_001329947.1:c.2333C>G NP_001316876.1:p.Thr778Ser
NM_001364700.1:c.2078C>G NP_001351629.1:p.Thr693Ser
NM_001364701.1:c.2078C>G NP_001351630.1:p.Thr693Ser
NM_014749.4:c.2105C>G NP_055564.3:p.Thr702Ser
XM_024449779.1:c.2456C>G XP_024305547.1:p.Thr819Ser
XM_024449780.1:c.2357C>G XP_024305548.1:p.Thr786Ser
XM_024449781.1:c.2456C>G XP_024305549.1:p.Thr819Ser
XM_024449782.1:c.2102C>G XP_024305550.1:p.Thr701Ser
XM_024449783.1:c.2102C>G XP_024305551.1:p.Thr701Ser
XM_024449784.1:c.2102C>G XP_024305552.1:p.Thr701Ser
XM_024449785.1:c.2078C>G XP_024305553.1:p.Thr693Ser
XM_024449787.1:c.1937C>G XP_024305555.1:p.Thr646Ser
XM_024449788.1:c.1913C>G XP_024305556.1:p.Thr638Ser
XM_024449789.1:c.1913C>G XP_024305557.1:p.Thr638Ser
XM_024449791.1:c.2357C>G XP_024305559.1:p.Thr786Ser
NM_001244189.2:c.2492C>G NP_001231118.1:p.Thr831Ser
NM_001244190.2:c.2288C>G NP_001231119.1:p.Thr763Ser
NM_001244192.2:c.2201C>G NP_001231121.1:p.Thr734Ser
NM_001329943.3:c.2333C>G MANE Select NP_001316872.1:p.Thr778Ser
NM_001329944.2:c.2333C>G NP_001316873.1:p.Thr778Ser
NM_001329945.2:c.2078C>G NP_001316874.1:p.Thr693Ser
NM_001329946.2:c.2333C>G NP_001316875.1:p.Thr778Ser
NM_001329947.2:c.2333C>G NP_001316876.1:p.Thr778Ser
NM_001364701.2:c.2078C>G NP_001351630.1:p.Thr693Ser
NM_014749.5:c.2105C>G NP_055564.3:p.Thr702Ser
NM_001244191.2:c.2078C>G NP_001231120.1:p.Thr693Ser
NM_001244193.2:c.1913C>G NP_001231122.1:p.Thr638Ser