Canonical Allele Identifier: CA1268208170

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575254G= , CM000664.2:g.88575254G=	GRCh38
NC_000002.11:g.88874772G= , CM000664.1:g.88874772G=	GRCh37
NC_000002.10:g.88655887G=	NCBI36
NG_016424.1:g.57323C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2057C=
ENST00000682276.1:n.1674C=
ENST00000682892.1:c.1776C=	ENSP00000507214.1:p.Phe592=
ENST00000682952.1:n.1868C=
ENST00000684455.1:c.1442C=
ENST00000684642.1:c.1626C=	ENSP00000507355.1:p.Phe542=
ENST00000684740.1:n.2407C=
ENST00000303236.9:c.2229C= MANE Select	ENSP00000307235.3:p.Phe743=
ENST00000652099.1:c.2423C=
ENST00000652736.1:n.2105C=
ENST00000303236.7:c.2229C=	ENSP00000307235.3:p.Phe743=
ENST00000415570.1:c.1866C=	ENSP00000412076.1:p.Phe622=
ENST00000419748.5:c.1776C=	ENSP00000408325.1:p.Phe592=
ENST00000470706.1:n.48+107C=
NM_001313915.1:c.1776C=	NP_001300844.1:p.Phe592=
NM_004836.5:c.2229C=	NP_004827.4:p.Phe743=
NM_004836.6:c.2229C=	NP_004827.4:p.Phe743=
NR_110236.1:n.1391G=
XM_005264649.3:c.1545C=	XP_005264706.1:p.Phe515=
XM_017005376.2:c.1545C=	XP_016860865.1:p.Phe515=
NM_004836.7:c.2229C= MANE Select	NP_004827.4:p.Phe743=
NM_001313915.2:c.1776C=	NP_001300844.1:p.Phe592=