Canonical Allele Identifier: CA1268208177
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575278C= , CM000664.2:g.88575278C= GRCh38
NC_000002.11:g.88874796C= , CM000664.1:g.88874796C= GRCh37
NC_000002.10:g.88655911C= NCBI36
NG_016424.1:g.57299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2033G=
ENST00000682276.1:n.1650G=
ENST00000682892.1:c.1752G= ENSP00000507214.1:p.Glu584=
ENST00000682952.1:n.1844G=
ENST00000684455.1:c.1418G=
ENST00000684642.1:c.1602G= ENSP00000507355.1:p.Glu534=
ENST00000684740.1:n.2383G=
ENST00000303236.9:c.2205G= MANE Select ENSP00000307235.3:p.Glu735=
ENST00000652099.1:c.2399G=
ENST00000652736.1:n.2081G=
ENST00000303236.7:c.2205G= ENSP00000307235.3:p.Glu735=
ENST00000415570.1:c.1842G= ENSP00000412076.1:p.Glu614=
ENST00000419748.5:c.1752G= ENSP00000408325.1:p.Glu584=
ENST00000470706.1:n.48+83G=
NM_001313915.1:c.1752G= NP_001300844.1:p.Glu584=
NM_004836.5:c.2205G= NP_004827.4:p.Glu735=
NM_004836.6:c.2205G= NP_004827.4:p.Glu735=
NR_110236.1:n.1415C=
XM_005264649.3:c.1521G= XP_005264706.1:p.Glu507=
XR_939749.1:n.2484G=
XM_017005376.2:c.1521G= XP_016860865.1:p.Glu507=
NM_004836.7:c.2205G= MANE Select NP_004827.4:p.Glu735=
NM_001313915.2:c.1752G= NP_001300844.1:p.Glu584=