Canonical Allele Identifier: CA347596488

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88593368C>T , CM000664.2:g.88593368C>T	GRCh38
NC_000002.11:g.88892886C>T , CM000664.1:g.88892886C>T	GRCh37
NC_000002.10:g.88674001C>T	NCBI36
NG_016424.1:g.39209G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.671G>A MANE Select	NP_004827.4:p.Trp224Ter
ENST00000303236.9:c.671G>A MANE Select	ENSP00000307235.3:p.Trp224Ter
NM_001313915.1:c.218G>A	NP_001300844.1:p.Trp73Ter
NM_001313915.2:c.218G>A	NP_001300844.1:p.Trp73Ter
NM_004836.5:c.671G>A	NP_004827.4:p.Trp224Ter
NM_004836.6:c.671G>A	NP_004827.4:p.Trp224Ter
ENST00000303236.7:c.671G>A	ENSP00000307235.3:p.Trp224Ter
ENST00000415570.1:c.308G>A	ENSP00000412076.1:p.Trp103Ter
ENST00000419748.5:c.218G>A	ENSP00000408325.1:p.Trp73Ter
ENST00000477083.1:n.204G>A
ENST00000652099.1:c.865G>A
ENST00000652736.1:n.547G>A
ENST00000681996.1:n.1862G>A
ENST00000682276.1:n.126G>A
ENST00000682892.1:c.218G>A	ENSP00000507214.1:p.Trp73Ter
ENST00000682952.1:n.212G>A
ENST00000684642.1:c.68G>A	ENSP00000507355.1:p.Trp23Ter
XM_005264649.3:c.-14G>A	XP_005264706.1:n.-14G>A
XM_017005376.2:c.-14G>A	XP_016860865.1:n.-14G>A
XR_939749.1:n.880G>A