Canonical Allele Identifier: CA1268208239

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575433G= , CM000664.2:g.88575433G=	GRCh38
NC_000002.11:g.88874951G= , CM000664.1:g.88874951G=	GRCh37
NC_000002.10:g.88656066G=	NCBI36
NG_016424.1:g.57144C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1878C=
ENST00000682276.1:n.1495C=
ENST00000682892.1:c.1597C=	ENSP00000507214.1:p.Leu533=
ENST00000682952.1:n.1689C=
ENST00000684455.1:c.1263C=
ENST00000684642.1:c.1447C=	ENSP00000507355.1:p.Leu483=
ENST00000684740.1:n.2228C=
ENST00000303236.9:c.2050C= MANE Select	ENSP00000307235.3:p.Leu684=
ENST00000652099.1:c.2244C=
ENST00000652736.1:n.1926C=
ENST00000303236.7:c.2050C=	ENSP00000307235.3:p.Leu684=
ENST00000415570.1:c.1687C=	ENSP00000412076.1:p.Leu563=
ENST00000419748.5:c.1597C=	ENSP00000408325.1:p.Leu533=
ENST00000478003.1:n.616C=
NM_001313915.1:c.1597C=	NP_001300844.1:p.Leu533=
NM_004836.5:c.2050C=	NP_004827.4:p.Leu684=
NM_004836.6:c.2050C=	NP_004827.4:p.Leu684=
NR_110236.1:n.1570G=
XM_005264649.3:c.1366C=	XP_005264706.1:p.Leu456=
XR_939749.1:n.2329C=
XM_017005376.2:c.1366C=	XP_016860865.1:p.Leu456=
NM_004836.7:c.2050C= MANE Select	NP_004827.4:p.Leu684=
NM_001313915.2:c.1597C=	NP_001300844.1:p.Leu533=