Canonical Allele Identifier: CA347596873

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88595605T>A , CM000664.2:g.88595605T>A	GRCh38
NC_000002.11:g.88895123T>A , CM000664.1:g.88895123T>A	GRCh37
NC_000002.10:g.88676238T>A	NCBI36
NG_016424.1:g.36972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682892.1:c.44A>T	ENSP00000507214.1:p.Gln15Leu
ENST00000303236.9:c.497A>T MANE Select	ENSP00000307235.3:p.Gln166Leu
ENST00000652099.1:c.495A>T
ENST00000652736.1:n.373A>T
ENST00000303236.7:c.497A>T	ENSP00000307235.3:p.Gln166Leu
ENST00000415570.1:c.134A>T	ENSP00000412076.1:p.Gln45Leu
ENST00000419748.5:c.44A>T	ENSP00000408325.1:p.Gln15Leu
NM_001313915.1:c.44A>T	NP_001300844.1:p.Gln15Leu
NM_004836.5:c.497A>T	NP_004827.4:p.Gln166Leu
NM_004836.6:c.497A>T	NP_004827.4:p.Gln166Leu
XR_939749.1:n.706A>T
XM_017005376.2:c.-384A>T	XP_016860865.1:n.-384A>T
NM_004836.7:c.497A>T MANE Select	NP_004827.4:p.Gln166Leu
NM_001313915.2:c.44A>T	NP_001300844.1:p.Gln15Leu