Canonical Allele Identifier: CA1754838

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88591034G>T , CM000664.2:g.88591034G>T	GRCh38
NC_000002.11:g.88890552G>T , CM000664.1:g.88890552G>T	GRCh37
NC_000002.10:g.88671667G>T	NCBI36
NG_016424.1:g.41543C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.786C>A MANE Select	NP_004827.4:p.Gly262=
ENST00000303236.9:c.786C>A MANE Select	ENSP00000307235.3:p.Gly262=
NM_001313915.1:c.333C>A	NP_001300844.1:p.Gly111=
NM_001313915.2:c.333C>A	NP_001300844.1:p.Gly111=
NM_004836.5:c.786C>A	NP_004827.4:p.Gly262=
NM_004836.6:c.786C>A	NP_004827.4:p.Gly262=
ENST00000303236.7:c.786C>A	ENSP00000307235.3:p.Gly262=
ENST00000415570.1:c.423C>A	ENSP00000412076.1:p.Gly141=
ENST00000419748.5:c.333C>A	ENSP00000408325.1:p.Gly111=
ENST00000477083.1:n.319C>A
ENST00000652099.1:c.980C>A
ENST00000652736.1:n.662C>A
ENST00000681996.1:n.1977C>A
ENST00000682276.1:n.241C>A
ENST00000682892.1:c.333C>A	ENSP00000507214.1:p.Gly111=
ENST00000682952.1:n.425C>A
ENST00000684455.1:c.25-26C>A
ENST00000684642.1:c.183C>A	ENSP00000507355.1:p.Gly61=
XM_005264649.3:c.102C>A	XP_005264706.1:p.Gly34=
XM_017005376.2:c.102C>A	XP_016860865.1:p.Gly34=
XR_939749.1:n.995C>A