Canonical Allele Identifier: CA1268208224
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575391G= , CM000664.2:g.88575391G= GRCh38
NC_000002.11:g.88874909G= , CM000664.1:g.88874909G= GRCh37
NC_000002.10:g.88656024G= NCBI36
NG_016424.1:g.57186C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1920C=
ENST00000682276.1:n.1537C=
ENST00000682892.1:c.1639C= ENSP00000507214.1:p.Arg547=
ENST00000682952.1:n.1731C=
ENST00000684455.1:c.1305C=
ENST00000684642.1:c.1489C= ENSP00000507355.1:p.Arg497=
ENST00000684740.1:n.2270C=
ENST00000303236.9:c.2092C= MANE Select ENSP00000307235.3:p.Arg698=
ENST00000652099.1:c.2286C=
ENST00000652736.1:n.1968C=
ENST00000303236.7:c.2092C= ENSP00000307235.3:p.Arg698=
ENST00000415570.1:c.1729C= ENSP00000412076.1:p.Arg577=
ENST00000419748.5:c.1639C= ENSP00000408325.1:p.Arg547=
ENST00000470706.1:n.18C=
ENST00000478003.1:n.658C=
NM_001313915.1:c.1639C= NP_001300844.1:p.Arg547=
NM_004836.5:c.2092C= NP_004827.4:p.Arg698=
NM_004836.6:c.2092C= NP_004827.4:p.Arg698=
NR_110236.1:n.1528G=
XM_005264649.3:c.1408C= XP_005264706.1:p.Arg470=
XR_939749.1:n.2371C=
XM_017005376.2:c.1408C= XP_016860865.1:p.Arg470=
NM_004836.7:c.2092C= MANE Select NP_004827.4:p.Arg698=
NM_001313915.2:c.1639C= NP_001300844.1:p.Arg547=