Canonical Allele Identifier: CA1268214697

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590575G= , CM000664.2:g.88590575G=	GRCh38
NC_000002.11:g.88890093G= , CM000664.1:g.88890093G=	GRCh37
NC_000002.10:g.88671208G=	NCBI36
NG_016424.1:g.42002C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2224C=
ENST00000682276.1:n.488C=
ENST00000682892.1:c.580C=	ENSP00000507214.1:p.Leu194=
ENST00000682952.1:n.672C=
ENST00000684455.1:c.246C=
ENST00000684642.1:c.430C=	ENSP00000507355.1:p.Leu144=
ENST00000303236.9:c.1033C= MANE Select	ENSP00000307235.3:p.Leu345=
ENST00000652099.1:c.1227C=
ENST00000652736.1:n.909C=
ENST00000303236.7:c.1033C=	ENSP00000307235.3:p.Leu345=
ENST00000415570.1:c.670C=	ENSP00000412076.1:p.Leu224=
ENST00000419748.5:c.580C=	ENSP00000408325.1:p.Leu194=
NM_001313915.1:c.580C=	NP_001300844.1:p.Leu194=
NM_004836.5:c.1033C=	NP_004827.4:p.Leu345=
NM_004836.6:c.1033C=	NP_004827.4:p.Leu345=
XM_005264649.3:c.349C=	XP_005264706.1:p.Leu117=
XR_939749.1:n.1242C=
XM_017005376.2:c.349C=	XP_016860865.1:p.Leu117=
NM_004836.7:c.1033C= MANE Select	NP_004827.4:p.Leu345=
NM_001313915.2:c.580C=	NP_001300844.1:p.Leu194=