Canonical Allele Identifier: CA1268208172
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575257T= , CM000664.2:g.88575257T= GRCh38
NC_000002.11:g.88874775T= , CM000664.1:g.88874775T= GRCh37
NC_000002.10:g.88655890T= NCBI36
NG_016424.1:g.57320A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2054A=
ENST00000682276.1:n.1671A=
ENST00000682892.1:c.1773A= ENSP00000507214.1:p.Glu591=
ENST00000682952.1:n.1865A=
ENST00000684455.1:c.1439A=
ENST00000684642.1:c.1623A= ENSP00000507355.1:p.Glu541=
ENST00000684740.1:n.2404A=
ENST00000303236.9:c.2226A= MANE Select ENSP00000307235.3:p.Glu742=
ENST00000652099.1:c.2420A=
ENST00000652736.1:n.2102A=
ENST00000303236.7:c.2226A= ENSP00000307235.3:p.Glu742=
ENST00000415570.1:c.1863A= ENSP00000412076.1:p.Glu621=
ENST00000419748.5:c.1773A= ENSP00000408325.1:p.Glu591=
ENST00000470706.1:n.48+104A=
NM_001313915.1:c.1773A= NP_001300844.1:p.Glu591=
NM_004836.5:c.2226A= NP_004827.4:p.Glu742=
NM_004836.6:c.2226A= NP_004827.4:p.Glu742=
NR_110236.1:n.1394T=
XM_005264649.3:c.1542A= XP_005264706.1:p.Glu514=
XM_017005376.2:c.1542A= XP_016860865.1:p.Glu514=
NM_004836.7:c.2226A= MANE Select NP_004827.4:p.Glu742=
NM_001313915.2:c.1773A= NP_001300844.1:p.Glu591=