Canonical Allele Identifier: CA1268208145
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575191A= , CM000664.2:g.88575191A= GRCh38
NC_000002.11:g.88874709A= , CM000664.1:g.88874709A= GRCh37
NC_000002.10:g.88655824A= NCBI36
NG_016424.1:g.57386T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2120T=
ENST00000682276.1:n.1737T=
ENST00000682892.1:c.1839T= ENSP00000507214.1:p.Ser613=
ENST00000682952.1:n.1931T=
ENST00000684455.1:c.1505T=
ENST00000684642.1:c.1689T= ENSP00000507355.1:p.Ser563=
ENST00000684740.1:n.2470T=
ENST00000303236.9:c.2292T= MANE Select ENSP00000307235.3:p.Ser764=
ENST00000652099.1:c.2486T=
ENST00000652736.1:n.2168T=
ENST00000303236.7:c.2292T= ENSP00000307235.3:p.Ser764=
ENST00000415570.1:c.1929T= ENSP00000412076.1:p.Ser643=
ENST00000419748.5:c.1839T= ENSP00000408325.1:p.Ser613=
ENST00000470706.1:n.49-114T=
NM_001313915.1:c.1839T= NP_001300844.1:p.Ser613=
NM_004836.5:c.2292T= NP_004827.4:p.Ser764=
NM_004836.6:c.2292T= NP_004827.4:p.Ser764=
NR_110236.1:n.1328A=
XM_005264649.3:c.1608T= XP_005264706.1:p.Ser536=
XM_017005376.2:c.1608T= XP_016860865.1:p.Ser536=
NM_004836.7:c.2292T= MANE Select NP_004827.4:p.Ser764=
NM_001313915.2:c.1839T= NP_001300844.1:p.Ser613=