Canonical Allele Identifier: CA1268208240

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575440G= , CM000664.2:g.88575440G=	GRCh38
NC_000002.11:g.88874958G= , CM000664.1:g.88874958G=	GRCh37
NC_000002.10:g.88656073G=	NCBI36
NG_016424.1:g.57137C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1871C=
ENST00000682276.1:n.1488C=
ENST00000682892.1:c.1590C=	ENSP00000507214.1:p.Asp530=
ENST00000682952.1:n.1682C=
ENST00000684455.1:c.1256C=
ENST00000684642.1:c.1440C=	ENSP00000507355.1:p.Asp480=
ENST00000684740.1:n.2221C=
ENST00000303236.9:c.2043C= MANE Select	ENSP00000307235.3:p.Asp681=
ENST00000652099.1:c.2237C=
ENST00000652736.1:n.1919C=
ENST00000303236.7:c.2043C=	ENSP00000307235.3:p.Asp681=
ENST00000415570.1:c.1680C=	ENSP00000412076.1:p.Asp560=
ENST00000419748.5:c.1590C=	ENSP00000408325.1:p.Asp530=
ENST00000478003.1:n.609C=
NM_001313915.1:c.1590C=	NP_001300844.1:p.Asp530=
NM_004836.5:c.2043C=	NP_004827.4:p.Asp681=
NM_004836.6:c.2043C=	NP_004827.4:p.Asp681=
NR_110236.1:n.1577G=
XM_005264649.3:c.1359C=	XP_005264706.1:p.Asp453=
XR_939749.1:n.2322C=
XM_017005376.2:c.1359C=	XP_016860865.1:p.Asp453=
NM_004836.7:c.2043C= MANE Select	NP_004827.4:p.Asp681=
NM_001313915.2:c.1590C=	NP_001300844.1:p.Asp530=