Canonical Allele Identifier: CA1268208154
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575217C= , CM000664.2:g.88575217C= GRCh38
NC_000002.11:g.88874735C= , CM000664.1:g.88874735C= GRCh37
NC_000002.10:g.88655850C= NCBI36
NG_016424.1:g.57360G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2094G=
ENST00000682276.1:n.1711G=
ENST00000682892.1:c.1813G= ENSP00000507214.1:p.Asp605=
ENST00000682952.1:n.1905G=
ENST00000684455.1:c.1479G=
ENST00000684642.1:c.1663G= ENSP00000507355.1:p.Asp555=
ENST00000684740.1:n.2444G=
ENST00000303236.9:c.2266G= MANE Select ENSP00000307235.3:p.Asp756=
ENST00000652099.1:c.2460G=
ENST00000652736.1:n.2142G=
ENST00000303236.7:c.2266G= ENSP00000307235.3:p.Asp756=
ENST00000415570.1:c.1903G= ENSP00000412076.1:p.Asp635=
ENST00000419748.5:c.1813G= ENSP00000408325.1:p.Asp605=
ENST00000470706.1:n.49-140G=
NM_001313915.1:c.1813G= NP_001300844.1:p.Asp605=
NM_004836.5:c.2266G= NP_004827.4:p.Asp756=
NM_004836.6:c.2266G= NP_004827.4:p.Asp756=
NR_110236.1:n.1354C=
XM_005264649.3:c.1582G= XP_005264706.1:p.Asp528=
XM_017005376.2:c.1582G= XP_016860865.1:p.Asp528=
NM_004836.7:c.2266G= MANE Select NP_004827.4:p.Asp756=
NM_001313915.2:c.1813G= NP_001300844.1:p.Asp605=