Canonical Allele Identifier: CA347596486

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88593367C>T , CM000664.2:g.88593367C>T	GRCh38
NC_000002.11:g.88892885C>T , CM000664.1:g.88892885C>T	GRCh37
NC_000002.10:g.88674000C>T	NCBI36
NG_016424.1:g.39210G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.672G>A MANE Select	NP_004827.4:p.Trp224Ter
ENST00000303236.9:c.672G>A MANE Select	ENSP00000307235.3:p.Trp224Ter
NM_001313915.1:c.219G>A	NP_001300844.1:p.Trp73Ter
NM_001313915.2:c.219G>A	NP_001300844.1:p.Trp73Ter
NM_004836.5:c.672G>A	NP_004827.4:p.Trp224Ter
NM_004836.6:c.672G>A	NP_004827.4:p.Trp224Ter
ENST00000303236.7:c.672G>A	ENSP00000307235.3:p.Trp224Ter
ENST00000415570.1:c.309G>A	ENSP00000412076.1:p.Trp103Ter
ENST00000419748.5:c.219G>A	ENSP00000408325.1:p.Trp73Ter
ENST00000477083.1:n.205G>A
ENST00000652099.1:c.866G>A
ENST00000652736.1:n.548G>A
ENST00000681996.1:n.1863G>A
ENST00000682276.1:n.127G>A
ENST00000682892.1:c.219G>A	ENSP00000507214.1:p.Trp73Ter
ENST00000682952.1:n.213G>A
ENST00000684642.1:c.69G>A	ENSP00000507355.1:p.Trp23Ter
XM_005264649.3:c.-13G>A	XP_005264706.1:n.-13G>A
XM_017005376.2:c.-13G>A	XP_016860865.1:n.-13G>A
XR_939749.1:n.881G>A