Canonical Allele Identifier: CA1754778

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590571T>C , CM000664.2:g.88590571T>C	GRCh38
NC_000002.11:g.88890089T>C , CM000664.1:g.88890089T>C	GRCh37
NC_000002.10:g.88671204T>C	NCBI36
NG_016424.1:g.42006A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1037A>G MANE Select	NP_004827.4:p.Lys346Arg
ENST00000303236.9:c.1037A>G MANE Select	ENSP00000307235.3:p.Lys346Arg
NM_001313915.1:c.584A>G	NP_001300844.1:p.Lys195Arg
NM_001313915.2:c.584A>G	NP_001300844.1:p.Lys195Arg
NM_004836.5:c.1037A>G	NP_004827.4:p.Lys346Arg
NM_004836.6:c.1037A>G	NP_004827.4:p.Lys346Arg
ENST00000303236.7:c.1037A>G	ENSP00000307235.3:p.Lys346Arg
ENST00000415570.1:c.674A>G	ENSP00000412076.1:p.Lys225Arg
ENST00000419748.5:c.584A>G	ENSP00000408325.1:p.Lys195Arg
ENST00000652099.1:c.1231A>G
ENST00000652736.1:n.913A>G
ENST00000681996.1:n.2228A>G
ENST00000682276.1:n.492A>G
ENST00000682892.1:c.584A>G	ENSP00000507214.1:p.Lys195Arg
ENST00000682952.1:n.676A>G
ENST00000684455.1:c.250A>G
ENST00000684642.1:c.434A>G	ENSP00000507355.1:p.Lys145Arg
XM_005264649.3:c.353A>G	XP_005264706.1:p.Lys118Arg
XM_017005376.2:c.353A>G	XP_016860865.1:p.Lys118Arg
XR_939749.1:n.1246A>G