Canonical Allele Identifier: CA347594407

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88585928C>T , CM000664.2:g.88585928C>T	GRCh38
NC_000002.11:g.88885446C>T , CM000664.1:g.88885446C>T	GRCh37
NC_000002.10:g.88666561C>T	NCBI36
NG_016424.1:g.46649G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1563G>A MANE Select	NP_004827.4:p.Trp521Ter
ENST00000303236.9:c.1563G>A MANE Select	ENSP00000307235.3:p.Trp521Ter
NM_001313915.1:c.1110G>A	NP_001300844.1:p.Trp370Ter
NM_001313915.2:c.1110G>A	NP_001300844.1:p.Trp370Ter
NM_004836.5:c.1563G>A	NP_004827.4:p.Trp521Ter
NM_004836.6:c.1563G>A	NP_004827.4:p.Trp521Ter
ENST00000303236.7:c.1563G>A	ENSP00000307235.3:p.Trp521Ter
ENST00000415570.1:c.1200G>A	ENSP00000412076.1:p.Trp400Ter
ENST00000419748.5:c.1110G>A	ENSP00000408325.1:p.Trp370Ter
ENST00000652099.1:c.1757G>A
ENST00000652736.1:n.1439G>A
ENST00000682276.1:n.1008G>A
ENST00000682892.1:c.1110G>A	ENSP00000507214.1:p.Trp370Ter
ENST00000682952.1:n.1202G>A
ENST00000684455.1:c.776G>A
ENST00000684642.1:c.960G>A	ENSP00000507355.1:p.Trp320Ter
XM_005264649.3:c.879G>A	XP_005264706.1:p.Trp293Ter
XM_017005376.2:c.879G>A	XP_016860865.1:p.Trp293Ter
XR_939749.1:n.1772G>A