Canonical Allele Identifier: CA1268208120

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575122A= , CM000664.2:g.88575122A=	GRCh38
NC_000002.11:g.88874640A= , CM000664.1:g.88874640A=	GRCh37
NC_000002.10:g.88655755A=	NCBI36
NG_016424.1:g.57455T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2189T=
ENST00000682276.1:n.1806T=
ENST00000682892.1:c.1908T=	ENSP00000507214.1:p.Leu636=
ENST00000682952.1:n.2000T=
ENST00000684455.1:c.1574T=
ENST00000684642.1:c.1758T=	ENSP00000507355.1:p.Leu586=
ENST00000684740.1:n.2539T=
ENST00000303236.9:c.2361T= MANE Select	ENSP00000307235.3:p.Leu787=
ENST00000652099.1:c.2555T=
ENST00000652736.1:n.2237T=
ENST00000303236.7:c.2361T=	ENSP00000307235.3:p.Leu787=
ENST00000415570.1:c.1998T=	ENSP00000412076.1:p.Leu666=
ENST00000419748.5:c.1908T=	ENSP00000408325.1:p.Leu636=
ENST00000470706.1:n.49-45T=
NM_001313915.1:c.1908T=	NP_001300844.1:p.Leu636=
NM_004836.5:c.2361T=	NP_004827.4:p.Leu787=
NM_004836.6:c.2361T=	NP_004827.4:p.Leu787=
NR_110236.1:n.1259A=
XM_005264649.3:c.1677T=	XP_005264706.1:p.Leu559=
XM_017005376.2:c.1677T=	XP_016860865.1:p.Leu559=
NM_004836.7:c.2361T= MANE Select	NP_004827.4:p.Leu787=
NM_001313915.2:c.1908T=	NP_001300844.1:p.Leu636=