Canonical Allele Identifier: CA1268208109
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575087C= , CM000664.2:g.88575087C= GRCh38
NC_000002.11:g.88874605C= , CM000664.1:g.88874605C= GRCh37
NC_000002.10:g.88655720C= NCBI36
NG_016424.1:g.57490G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2224G=
ENST00000682276.1:n.1841G=
ENST00000682892.1:c.1943G= ENSP00000507214.1:p.Arg648=
ENST00000682952.1:n.2035G=
ENST00000684455.1:c.1609G=
ENST00000684642.1:c.1793G= ENSP00000507355.1:p.Arg598=
ENST00000684740.1:n.2574G=
ENST00000303236.9:c.2396G= MANE Select ENSP00000307235.3:p.Arg799=
ENST00000652099.1:c.2590G=
ENST00000652736.1:n.2272G=
ENST00000303236.7:c.2396G= ENSP00000307235.3:p.Arg799=
ENST00000415570.1:c.2033G= ENSP00000412076.1:p.Arg678=
ENST00000419748.5:c.1943G= ENSP00000408325.1:p.Arg648=
ENST00000470706.1:n.49-10G=
NM_001313915.1:c.1943G= NP_001300844.1:p.Arg648=
NM_004836.5:c.2396G= NP_004827.4:p.Arg799=
NM_004836.6:c.2396G= NP_004827.4:p.Arg799=
NR_110236.1:n.1224C=
XM_005264649.3:c.1712G= XP_005264706.1:p.Arg571=
XM_017005376.2:c.1712G= XP_016860865.1:p.Arg571=
NM_004836.7:c.2396G= MANE Select NP_004827.4:p.Arg799=
NM_001313915.2:c.1943G= NP_001300844.1:p.Arg648=