Canonical Allele Identifier: CA1268208160

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575231A= , CM000664.2:g.88575231A=	GRCh38
NC_000002.11:g.88874749A= , CM000664.1:g.88874749A=	GRCh37
NC_000002.10:g.88655864A=	NCBI36
NG_016424.1:g.57346T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2080T=
ENST00000682276.1:n.1697T=
ENST00000682892.1:c.1799T=	ENSP00000507214.1:p.Ile600=
ENST00000682952.1:n.1891T=
ENST00000684455.1:c.1465T=
ENST00000684642.1:c.1649T=	ENSP00000507355.1:p.Ile550=
ENST00000684740.1:n.2430T=
ENST00000303236.9:c.2252T= MANE Select	ENSP00000307235.3:p.Ile751=
ENST00000652099.1:c.2446T=
ENST00000652736.1:n.2128T=
ENST00000303236.7:c.2252T=	ENSP00000307235.3:p.Ile751=
ENST00000415570.1:c.1889T=	ENSP00000412076.1:p.Ile630=
ENST00000419748.5:c.1799T=	ENSP00000408325.1:p.Ile600=
ENST00000470706.1:n.48+130T=
NM_001313915.1:c.1799T=	NP_001300844.1:p.Ile600=
NM_004836.5:c.2252T=	NP_004827.4:p.Ile751=
NM_004836.6:c.2252T=	NP_004827.4:p.Ile751=
NR_110236.1:n.1368A=
XM_005264649.3:c.1568T=	XP_005264706.1:p.Ile523=
XM_017005376.2:c.1568T=	XP_016860865.1:p.Ile523=
NM_004836.7:c.2252T= MANE Select	NP_004827.4:p.Ile751=
NM_001313915.2:c.1799T=	NP_001300844.1:p.Ile600=