Canonical Allele Identifier: CA347596553

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88593398T>C , CM000664.2:g.88593398T>C	GRCh38
NC_000002.11:g.88892916T>C , CM000664.1:g.88892916T>C	GRCh37
NC_000002.10:g.88674031T>C	NCBI36
NG_016424.1:g.39179A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.641A>G MANE Select	NP_004827.4:p.Tyr214Cys
ENST00000303236.9:c.641A>G MANE Select	ENSP00000307235.3:p.Tyr214Cys
NM_001313915.1:c.188A>G	NP_001300844.1:p.Tyr63Cys
NM_001313915.2:c.188A>G	NP_001300844.1:p.Tyr63Cys
NM_004836.5:c.641A>G	NP_004827.4:p.Tyr214Cys
NM_004836.6:c.641A>G	NP_004827.4:p.Tyr214Cys
ENST00000303236.7:c.641A>G	ENSP00000307235.3:p.Tyr214Cys
ENST00000415570.1:c.278A>G	ENSP00000412076.1:p.Tyr93Cys
ENST00000419748.5:c.188A>G	ENSP00000408325.1:p.Tyr63Cys
ENST00000477083.1:n.174A>G
ENST00000652099.1:c.835A>G
ENST00000652736.1:n.517A>G
ENST00000681996.1:n.1832A>G
ENST00000682276.1:n.96A>G
ENST00000682892.1:c.188A>G	ENSP00000507214.1:p.Tyr63Cys
ENST00000682952.1:n.182A>G
ENST00000684642.1:c.38A>G	ENSP00000507355.1:p.Tyr13Cys
XM_005264649.3:c.-44A>G	XP_005264706.1:n.-44A>G
XM_017005376.2:c.-44A>G	XP_016860865.1:n.-44A>G
XR_939749.1:n.850A>G