Canonical Allele Identifier: CA1268208223
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575390C= , CM000664.2:g.88575390C= GRCh38
NC_000002.11:g.88874908C= , CM000664.1:g.88874908C= GRCh37
NC_000002.10:g.88656023C= NCBI36
NG_016424.1:g.57187G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1921G=
ENST00000682276.1:n.1538G=
ENST00000682892.1:c.1640G= ENSP00000507214.1:p.Arg547=
ENST00000682952.1:n.1732G=
ENST00000684455.1:c.1306G=
ENST00000684642.1:c.1490G= ENSP00000507355.1:p.Arg497=
ENST00000684740.1:n.2271G=
ENST00000303236.9:c.2093G= MANE Select ENSP00000307235.3:p.Arg698=
ENST00000652099.1:c.2287G=
ENST00000652736.1:n.1969G=
ENST00000303236.7:c.2093G= ENSP00000307235.3:p.Arg698=
ENST00000415570.1:c.1730G= ENSP00000412076.1:p.Arg577=
ENST00000419748.5:c.1640G= ENSP00000408325.1:p.Arg547=
ENST00000470706.1:n.19G=
ENST00000478003.1:n.659G=
NM_001313915.1:c.1640G= NP_001300844.1:p.Arg547=
NM_004836.5:c.2093G= NP_004827.4:p.Arg698=
NM_004836.6:c.2093G= NP_004827.4:p.Arg698=
NR_110236.1:n.1527C=
XM_005264649.3:c.1409G= XP_005264706.1:p.Arg470=
XR_939749.1:n.2372G=
XM_017005376.2:c.1409G= XP_016860865.1:p.Arg470=
NM_004836.7:c.2093G= MANE Select NP_004827.4:p.Arg698=
NM_001313915.2:c.1640G= NP_001300844.1:p.Arg547=