Canonical Allele Identifier: CA1268208115
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575108G= , CM000664.2:g.88575108G= GRCh38
NC_000002.11:g.88874626G= , CM000664.1:g.88874626G= GRCh37
NC_000002.10:g.88655741G= NCBI36
NG_016424.1:g.57469C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2203C=
ENST00000682276.1:n.1820C=
ENST00000682892.1:c.1922C= ENSP00000507214.1:p.Ala641=
ENST00000682952.1:n.2014C=
ENST00000684455.1:c.1588C=
ENST00000684642.1:c.1772C= ENSP00000507355.1:p.Ala591=
ENST00000684740.1:n.2553C=
ENST00000303236.9:c.2375C= MANE Select ENSP00000307235.3:p.Ala792=
ENST00000652099.1:c.2569C=
ENST00000652736.1:n.2251C=
ENST00000303236.7:c.2375C= ENSP00000307235.3:p.Ala792=
ENST00000415570.1:c.2012C= ENSP00000412076.1:p.Ala671=
ENST00000419748.5:c.1922C= ENSP00000408325.1:p.Ala641=
ENST00000470706.1:n.49-31C=
NM_001313915.1:c.1922C= NP_001300844.1:p.Ala641=
NM_004836.5:c.2375C= NP_004827.4:p.Ala792=
NM_004836.6:c.2375C= NP_004827.4:p.Ala792=
NR_110236.1:n.1245G=
XM_005264649.3:c.1691C= XP_005264706.1:p.Ala564=
XM_017005376.2:c.1691C= XP_016860865.1:p.Ala564=
NM_004836.7:c.2375C= MANE Select NP_004827.4:p.Ala792=
NM_001313915.2:c.1922C= NP_001300844.1:p.Ala641=