Canonical Allele Identifier: CA1268208164

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575242G= , CM000664.2:g.88575242G=	GRCh38
NC_000002.11:g.88874760G= , CM000664.1:g.88874760G=	GRCh37
NC_000002.10:g.88655875G=	NCBI36
NG_016424.1:g.57335C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2069C=
ENST00000682276.1:n.1686C=
ENST00000682892.1:c.1788C=	ENSP00000507214.1:p.Asp596=
ENST00000682952.1:n.1880C=
ENST00000684455.1:c.1454C=
ENST00000684642.1:c.1638C=	ENSP00000507355.1:p.Asp546=
ENST00000684740.1:n.2419C=
ENST00000303236.9:c.2241C= MANE Select	ENSP00000307235.3:p.Asp747=
ENST00000652099.1:c.2435C=
ENST00000652736.1:n.2117C=
ENST00000303236.7:c.2241C=	ENSP00000307235.3:p.Asp747=
ENST00000415570.1:c.1878C=	ENSP00000412076.1:p.Asp626=
ENST00000419748.5:c.1788C=	ENSP00000408325.1:p.Asp596=
ENST00000470706.1:n.48+119C=
NM_001313915.1:c.1788C=	NP_001300844.1:p.Asp596=
NM_004836.5:c.2241C=	NP_004827.4:p.Asp747=
NM_004836.6:c.2241C=	NP_004827.4:p.Asp747=
NR_110236.1:n.1379G=
XM_005264649.3:c.1557C=	XP_005264706.1:p.Asp519=
XM_017005376.2:c.1557C=	XP_016860865.1:p.Asp519=
NM_004836.7:c.2241C= MANE Select	NP_004827.4:p.Asp747=
NM_001313915.2:c.1788C=	NP_001300844.1:p.Asp596=