Canonical Allele Identifier: CA427172310

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88557853C>T , CM000664.2:g.88557853C>T	GRCh38
NC_000002.11:g.88857371C>T , CM000664.1:g.88857371C>T	GRCh37
NC_000002.10:g.88638486C>T	NCBI36
NG_016424.1:g.74724G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.3234G>A MANE Select	NP_004827.4:p.Glu1078=
ENST00000303236.9:c.3234G>A MANE Select	ENSP00000307235.3:p.Glu1078=
NM_001313915.1:c.2781G>A	NP_001300844.1:p.Glu927=
NM_001313915.2:c.2781G>A	NP_001300844.1:p.Glu927=
NM_004836.5:c.3234G>A	NP_004827.4:p.Glu1078=
NM_004836.6:c.3234G>A	NP_004827.4:p.Glu1078=
NR_110236.1:n.651-16661C>T
ENST00000303236.7:c.3234G>A	ENSP00000307235.3:p.Glu1078=
ENST00000419748.5:c.2781G>A	ENSP00000408325.1:p.Glu927=
ENST00000652099.1:c.3428G>A
ENST00000652666.1:n.264G>A
ENST00000652666.2:n.2504G>A
ENST00000652736.1:n.3110G>A
ENST00000682103.1:c.729G>A
ENST00000682276.1:n.2679G>A
ENST00000682468.1:n.772G>A
ENST00000682603.1:c.301G>A
ENST00000682844.1:c.1270G>A
ENST00000682892.1:c.2781G>A	ENSP00000507214.1:p.Glu927=
ENST00000682952.1:n.2873G>A
ENST00000683663.1:n.3220G>A
ENST00000684455.1:c.2447G>A
ENST00000684642.1:c.2463G>A	ENSP00000507355.1:p.Glu821=
ENST00000684740.1:n.3412G>A
XM_005264649.3:c.2550G>A	XP_005264706.1:p.Glu850=
XM_017005376.2:c.2550G>A	XP_016860865.1:p.Glu850=