Canonical Allele Identifier: CA1268211589
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583430C= , CM000664.2:g.88583430C= GRCh38
NC_000002.11:g.88882948C= , CM000664.1:g.88882948C= GRCh37
NC_000002.10:g.88664063C= NCBI36
NG_016424.1:g.49147G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1208G=
ENST00000682892.1:c.1310G= ENSP00000507214.1:p.Arg437=
ENST00000682952.1:n.1402G=
ENST00000684455.1:c.976G=
ENST00000684642.1:c.1160G= ENSP00000507355.1:p.Arg387=
ENST00000303236.9:c.1763G= MANE Select ENSP00000307235.3:p.Arg588=
ENST00000652099.1:c.1957G=
ENST00000652736.1:n.1639G=
ENST00000303236.7:c.1763G= ENSP00000307235.3:p.Arg588=
ENST00000415570.1:c.1400G= ENSP00000412076.1:p.Arg467=
ENST00000419748.5:c.1310G= ENSP00000408325.1:p.Arg437=
NM_001313915.1:c.1310G= NP_001300844.1:p.Arg437=
NM_004836.5:c.1763G= NP_004827.4:p.Arg588=
NM_004836.6:c.1763G= NP_004827.4:p.Arg588=
XM_005264649.3:c.1079G= XP_005264706.1:p.Arg360=
XR_939749.1:n.1972G=
XM_017005376.2:c.1079G= XP_016860865.1:p.Arg360=
NM_004836.7:c.1763G= MANE Select NP_004827.4:p.Arg588=
NM_001313915.2:c.1310G= NP_001300844.1:p.Arg437=