Canonical Allele Identifier: CA1268208221

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575384A= , CM000664.2:g.88575384A=	GRCh38
NC_000002.11:g.88874902A= , CM000664.1:g.88874902A=	GRCh37
NC_000002.10:g.88656017A=	NCBI36
NG_016424.1:g.57193T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1927T=
ENST00000682276.1:n.1544T=
ENST00000682892.1:c.1646T=	ENSP00000507214.1:p.Met549=
ENST00000682952.1:n.1738T=
ENST00000684455.1:c.1312T=
ENST00000684642.1:c.1496T=	ENSP00000507355.1:p.Met499=
ENST00000684740.1:n.2277T=
ENST00000303236.9:c.2099T= MANE Select	ENSP00000307235.3:p.Met700=
ENST00000652099.1:c.2293T=
ENST00000652736.1:n.1975T=
ENST00000303236.7:c.2099T=	ENSP00000307235.3:p.Met700=
ENST00000415570.1:c.1736T=	ENSP00000412076.1:p.Met579=
ENST00000419748.5:c.1646T=	ENSP00000408325.1:p.Met549=
ENST00000470706.1:n.25T=
ENST00000478003.1:n.665T=
NM_001313915.1:c.1646T=	NP_001300844.1:p.Met549=
NM_004836.5:c.2099T=	NP_004827.4:p.Met700=
NM_004836.6:c.2099T=	NP_004827.4:p.Met700=
NR_110236.1:n.1521A=
XM_005264649.3:c.1415T=	XP_005264706.1:p.Met472=
XR_939749.1:n.2378T=
XM_017005376.2:c.1415T=	XP_016860865.1:p.Met472=
NM_004836.7:c.2099T= MANE Select	NP_004827.4:p.Met700=
NM_001313915.2:c.1646T=	NP_001300844.1:p.Met549=