Canonical Allele Identifier: CA7205583
Community Standard Title: NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58453450A>G , CM000676.2:g.58453450A>G GRCh38
NC_000014.8:g.58920168A>G , CM000676.1:g.58920168A>G GRCh37
NC_000014.7:g.57989921A>G NCBI36
NG_051335.2:g.31066A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.1230A>G MANE Select NP_001316872.1:p.Gly410=
ENST00000652326.2:c.1230A>G MANE Select ENSP00000498929.1:p.Gly410=
NM_001244189.1:c.1389A>G NP_001231118.1:p.Gly463=
NM_001244189.2:c.1389A>G NP_001231118.1:p.Gly463=
NM_001244190.1:c.1185A>G NP_001231119.1:p.Gly395=
NM_001244190.2:c.1185A>G NP_001231119.1:p.Gly395=
NM_001244191.1:c.975A>G NP_001231120.1:p.Gly325=
NM_001244191.2:c.975A>G NP_001231120.1:p.Gly325=
NM_001244192.1:c.1098A>G NP_001231121.1:p.Gly366=
NM_001244192.2:c.1098A>G NP_001231121.1:p.Gly366=
NM_001244193.1:c.810A>G NP_001231122.1:p.Gly270=
NM_001244193.2:c.810A>G NP_001231122.1:p.Gly270=
NM_001329943.2:c.1230A>G NP_001316872.1:p.Gly410=
NM_001329944.1:c.1230A>G NP_001316873.1:p.Gly410=
NM_001329944.2:c.1230A>G NP_001316873.1:p.Gly410=
NM_001329945.1:c.975A>G NP_001316874.1:p.Gly325=
NM_001329945.2:c.975A>G NP_001316874.1:p.Gly325=
NM_001329946.1:c.1230A>G NP_001316875.1:p.Gly410=
NM_001329946.2:c.1230A>G NP_001316875.1:p.Gly410=
NM_001329947.1:c.1230A>G NP_001316876.1:p.Gly410=
NM_001329947.2:c.1230A>G NP_001316876.1:p.Gly410=
NM_001364700.1:c.975A>G NP_001351629.1:p.Gly325=
NM_001364701.1:c.975A>G NP_001351630.1:p.Gly325=
NM_001364701.2:c.975A>G NP_001351630.1:p.Gly325=
NM_014749.3:c.1230A>G NP_055564.3:p.Gly410=
NM_014749.4:c.1230A>G NP_055564.3:p.Gly410=
NM_014749.5:c.1230A>G NP_055564.3:p.Gly410=
ENST00000261244.9:c.1230A>G ENSP00000261244.5:p.Gly410=
ENST00000354386.10:c.1389A>G ENSP00000346359.6:p.Gly463=
ENST00000423743.7:c.1098A>G ENSP00000399427.3:p.Gly366=
ENST00000538571.6:n.820A>G
ENST00000556134.5:c.1098A>G ENSP00000452351.2:p.Gly366=
ENST00000619416.4:c.1185A>G ENSP00000478083.1:p.Gly395=
ENST00000619722.4:c.975A>G ENSP00000481936.1:p.Gly325=
ENST00000619722.5:c.975A>G ENSP00000481936.1:p.Gly325=
ENST00000650845.1:n.1776A>G
ENST00000650904.1:c.1230A>G ENSP00000498606.1:p.Gly410=
ENST00000651937.1:c.1185A>G ENSP00000498785.1:p.Gly395=
ENST00000652120.1:n.982A>G
ENST00000652732.1:c.*796A>G ENSP00000498799.1:n.*796A>G
ENST00000676447.1:n.371A>G
XM_024449779.1:c.1353A>G XP_024305547.1:p.Gly451=
XM_024449780.1:c.1230A>G XP_024305548.1:p.Gly410=
XM_024449781.1:c.1353A>G XP_024305549.1:p.Gly451=
XM_024449782.1:c.975A>G XP_024305550.1:p.Gly325=
XM_024449783.1:c.975A>G XP_024305551.1:p.Gly325=
XM_024449784.1:c.975A>G XP_024305552.1:p.Gly325=
XM_024449785.1:c.975A>G XP_024305553.1:p.Gly325=
XM_024449787.1:c.834A>G XP_024305555.1:p.Gly278=
XM_024449788.1:c.810A>G XP_024305556.1:p.Gly270=
XM_024449789.1:c.810A>G XP_024305557.1:p.Gly270=
XM_024449791.1:c.1230A>G XP_024305559.1:p.Gly410=