Canonical Allele Identifier: CA1754859

Gene: EIF2AK3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88593320C>T , CM000664.2:g.88593320C>T	GRCh38
NC_000002.11:g.88892838C>T , CM000664.1:g.88892838C>T	GRCh37
NC_000002.10:g.88673953C>T	NCBI36
NG_016424.1:g.39257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.1910G>A
ENST00000682276.1:n.174G>A
ENST00000682892.1:c.266G>A	ENSP00000507214.1:p.Arg89His
ENST00000682952.1:n.260G>A
ENST00000684642.1:c.116G>A	ENSP00000507355.1:p.Arg39His
ENST00000303236.9:c.719G>A MANE Select	ENSP00000307235.3:p.Arg240His
ENST00000652099.1:c.913G>A
ENST00000652736.1:n.595G>A
ENST00000303236.7:c.719G>A	ENSP00000307235.3:p.Arg240His
ENST00000415570.1:c.356G>A	ENSP00000412076.1:p.Arg119His
ENST00000419748.5:c.266G>A	ENSP00000408325.1:p.Arg89His
ENST00000477083.1:n.252G>A
NM_001313915.1:c.266G>A	NP_001300844.1:p.Arg89His
NM_004836.5:c.719G>A	NP_004827.4:p.Arg240His
NM_004836.6:c.719G>A	NP_004827.4:p.Arg240His
XM_005264649.3:c.35G>A	XP_005264706.1:p.Arg12His
XR_939749.1:n.928G>A
XM_017005376.2:c.35G>A	XP_016860865.1:p.Arg12His
NM_004836.7:c.719G>A MANE Select	NP_004827.4:p.Arg240His
NM_001313915.2:c.266G>A	NP_001300844.1:p.Arg89His