Canonical Allele Identifier: CA1268208227

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575400C= , CM000664.2:g.88575400C=	GRCh38
NC_000002.11:g.88874918C= , CM000664.1:g.88874918C=	GRCh37
NC_000002.10:g.88656033C=	NCBI36
NG_016424.1:g.57177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1911G=
ENST00000682276.1:n.1528G=
ENST00000682892.1:c.1630G=	ENSP00000507214.1:p.Val544=
ENST00000682952.1:n.1722G=
ENST00000684455.1:c.1296G=
ENST00000684642.1:c.1480G=	ENSP00000507355.1:p.Val494=
ENST00000684740.1:n.2261G=
ENST00000303236.9:c.2083G= MANE Select	ENSP00000307235.3:p.Val695=
ENST00000652099.1:c.2277G=
ENST00000652736.1:n.1959G=
ENST00000303236.7:c.2083G=	ENSP00000307235.3:p.Val695=
ENST00000415570.1:c.1720G=	ENSP00000412076.1:p.Val574=
ENST00000419748.5:c.1630G=	ENSP00000408325.1:p.Val544=
ENST00000470706.1:n.9G=
ENST00000478003.1:n.649G=
NM_001313915.1:c.1630G=	NP_001300844.1:p.Val544=
NM_004836.5:c.2083G=	NP_004827.4:p.Val695=
NM_004836.6:c.2083G=	NP_004827.4:p.Val695=
NR_110236.1:n.1537C=
XM_005264649.3:c.1399G=	XP_005264706.1:p.Val467=
XR_939749.1:n.2362G=
XM_017005376.2:c.1399G=	XP_016860865.1:p.Val467=
NM_004836.7:c.2083G= MANE Select	NP_004827.4:p.Val695=
NM_001313915.2:c.1630G=	NP_001300844.1:p.Val544=