Canonical Allele Identifier: CA1268208149

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575202G= , CM000664.2:g.88575202G=	GRCh38
NC_000002.11:g.88874720G= , CM000664.1:g.88874720G=	GRCh37
NC_000002.10:g.88655835G=	NCBI36
NG_016424.1:g.57375C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2109C=
ENST00000682276.1:n.1726C=
ENST00000682892.1:c.1828C=	ENSP00000507214.1:p.Leu610=
ENST00000682952.1:n.1920C=
ENST00000684455.1:c.1494C=
ENST00000684642.1:c.1678C=	ENSP00000507355.1:p.Leu560=
ENST00000684740.1:n.2459C=
ENST00000303236.9:c.2281C= MANE Select	ENSP00000307235.3:p.Leu761=
ENST00000652099.1:c.2475C=
ENST00000652736.1:n.2157C=
ENST00000303236.7:c.2281C=	ENSP00000307235.3:p.Leu761=
ENST00000415570.1:c.1918C=	ENSP00000412076.1:p.Leu640=
ENST00000419748.5:c.1828C=	ENSP00000408325.1:p.Leu610=
ENST00000470706.1:n.49-125C=
NM_001313915.1:c.1828C=	NP_001300844.1:p.Leu610=
NM_004836.5:c.2281C=	NP_004827.4:p.Leu761=
NM_004836.6:c.2281C=	NP_004827.4:p.Leu761=
NR_110236.1:n.1339G=
XM_005264649.3:c.1597C=	XP_005264706.1:p.Leu533=
XM_017005376.2:c.1597C=	XP_016860865.1:p.Leu533=
NM_004836.7:c.2281C= MANE Select	NP_004827.4:p.Leu761=
NM_001313915.2:c.1828C=	NP_001300844.1:p.Leu610=