Canonical Allele Identifier: CA1268208174

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575262G= , CM000664.2:g.88575262G=	GRCh38
NC_000002.11:g.88874780G= , CM000664.1:g.88874780G=	GRCh37
NC_000002.10:g.88655895G=	NCBI36
NG_016424.1:g.57315C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2049C=
ENST00000682276.1:n.1666C=
ENST00000682892.1:c.1768C=	ENSP00000507214.1:p.Leu590=
ENST00000682952.1:n.1860C=
ENST00000684455.1:c.1434C=
ENST00000684642.1:c.1618C=	ENSP00000507355.1:p.Leu540=
ENST00000684740.1:n.2399C=
ENST00000303236.9:c.2221C= MANE Select	ENSP00000307235.3:p.Leu741=
ENST00000652099.1:c.2415C=
ENST00000652736.1:n.2097C=
ENST00000303236.7:c.2221C=	ENSP00000307235.3:p.Leu741=
ENST00000415570.1:c.1858C=	ENSP00000412076.1:p.Leu620=
ENST00000419748.5:c.1768C=	ENSP00000408325.1:p.Leu590=
ENST00000470706.1:n.48+99C=
NM_001313915.1:c.1768C=	NP_001300844.1:p.Leu590=
NM_004836.5:c.2221C=	NP_004827.4:p.Leu741=
NM_004836.6:c.2221C=	NP_004827.4:p.Leu741=
NR_110236.1:n.1399G=
XM_005264649.3:c.1537C=	XP_005264706.1:p.Leu513=
XR_939749.1:n.2500C=
XM_017005376.2:c.1537C=	XP_016860865.1:p.Leu513=
NM_004836.7:c.2221C= MANE Select	NP_004827.4:p.Leu741=
NM_001313915.2:c.1768C=	NP_001300844.1:p.Leu590=