Canonical Allele Identifier: CA1754614

Gene: EIF2AK3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583442C>T , CM000664.2:g.88583442C>T	GRCh38
NC_000002.11:g.88882960C>T , CM000664.1:g.88882960C>T	GRCh37
NC_000002.10:g.88664075C>T	NCBI36
NG_016424.1:g.49135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1196G>A
ENST00000682892.1:c.1298G>A	ENSP00000507214.1:p.Gly433Glu
ENST00000682952.1:n.1390G>A
ENST00000684455.1:c.964G>A
ENST00000684642.1:c.1148G>A	ENSP00000507355.1:p.Gly383Glu
ENST00000303236.9:c.1751G>A MANE Select	ENSP00000307235.3:p.Gly584Glu
ENST00000652099.1:c.1945G>A
ENST00000652736.1:n.1627G>A
ENST00000303236.7:c.1751G>A	ENSP00000307235.3:p.Gly584Glu
ENST00000415570.1:c.1388G>A	ENSP00000412076.1:p.Gly463Glu
ENST00000419748.5:c.1298G>A	ENSP00000408325.1:p.Gly433Glu
NM_001313915.1:c.1298G>A	NP_001300844.1:p.Gly433Glu
NM_004836.5:c.1751G>A	NP_004827.4:p.Gly584Glu
NM_004836.6:c.1751G>A	NP_004827.4:p.Gly584Glu
XM_005264649.3:c.1067G>A	XP_005264706.1:p.Gly356Glu
XR_939749.1:n.1960G>A
XM_017005376.2:c.1067G>A	XP_016860865.1:p.Gly356Glu
NM_004836.7:c.1751G>A MANE Select	NP_004827.4:p.Gly584Glu
NM_001313915.2:c.1298G>A	NP_001300844.1:p.Gly433Glu