Canonical Allele Identifier: CA1268208139
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575168T= , CM000664.2:g.88575168T= GRCh38
NC_000002.11:g.88874686T= , CM000664.1:g.88874686T= GRCh37
NC_000002.10:g.88655801T= NCBI36
NG_016424.1:g.57409A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2143A=
ENST00000682276.1:n.1760A=
ENST00000682892.1:c.1862A= ENSP00000507214.1:p.Glu621=
ENST00000682952.1:n.1954A=
ENST00000684455.1:c.1528A=
ENST00000684642.1:c.1712A= ENSP00000507355.1:p.Glu571=
ENST00000684740.1:n.2493A=
ENST00000303236.9:c.2315A= MANE Select ENSP00000307235.3:p.Glu772=
ENST00000652099.1:c.2509A=
ENST00000652736.1:n.2191A=
ENST00000303236.7:c.2315A= ENSP00000307235.3:p.Glu772=
ENST00000415570.1:c.1952A= ENSP00000412076.1:p.Glu651=
ENST00000419748.5:c.1862A= ENSP00000408325.1:p.Glu621=
ENST00000470706.1:n.49-91A=
NM_001313915.1:c.1862A= NP_001300844.1:p.Glu621=
NM_004836.5:c.2315A= NP_004827.4:p.Glu772=
NM_004836.6:c.2315A= NP_004827.4:p.Glu772=
NR_110236.1:n.1305T=
XM_005264649.3:c.1631A= XP_005264706.1:p.Glu544=
XM_017005376.2:c.1631A= XP_016860865.1:p.Glu544=
NM_004836.7:c.2315A= MANE Select NP_004827.4:p.Glu772=
NM_001313915.2:c.1862A= NP_001300844.1:p.Glu621=