Canonical Allele Identifier: CA1268214658
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88590485C= , CM000664.2:g.88590485C= GRCh38
NC_000002.11:g.88890003C= , CM000664.1:g.88890003C= GRCh37
NC_000002.10:g.88671118C= NCBI36
NG_016424.1:g.42092G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681996.1:n.2314G=
ENST00000682276.1:n.578G=
ENST00000682892.1:c.670G= ENSP00000507214.1:p.Val224=
ENST00000682952.1:n.762G=
ENST00000684455.1:c.336G=
ENST00000684642.1:c.520G= ENSP00000507355.1:p.Val174=
ENST00000303236.9:c.1123G= MANE Select ENSP00000307235.3:p.Val375=
ENST00000652099.1:c.1317G=
ENST00000652736.1:n.999G=
ENST00000303236.7:c.1123G= ENSP00000307235.3:p.Val375=
ENST00000415570.1:c.760G= ENSP00000412076.1:p.Val254=
ENST00000419748.5:c.670G= ENSP00000408325.1:p.Val224=
NM_001313915.1:c.670G= NP_001300844.1:p.Val224=
NM_004836.5:c.1123G= NP_004827.4:p.Val375=
NM_004836.6:c.1123G= NP_004827.4:p.Val375=
XM_005264649.3:c.439G= XP_005264706.1:p.Val147=
XR_939749.1:n.1332G=
XM_017005376.2:c.439G= XP_016860865.1:p.Val147=
NM_004836.7:c.1123G= MANE Select NP_004827.4:p.Val375=
NM_001313915.2:c.670G= NP_001300844.1:p.Val224=