Canonical Allele Identifier: CA1754678

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88585987C>T , CM000664.2:g.88585987C>T	GRCh38
NC_000002.11:g.88885505C>T , CM000664.1:g.88885505C>T	GRCh37
NC_000002.10:g.88666620C>T	NCBI36
NG_016424.1:g.46590G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1504G>A MANE Select	NP_004827.4:p.Asp502Asn
ENST00000303236.9:c.1504G>A MANE Select	ENSP00000307235.3:p.Asp502Asn
NM_001313915.1:c.1051G>A	NP_001300844.1:p.Asp351Asn
NM_001313915.2:c.1051G>A	NP_001300844.1:p.Asp351Asn
NM_004836.5:c.1504G>A	NP_004827.4:p.Asp502Asn
NM_004836.6:c.1504G>A	NP_004827.4:p.Asp502Asn
ENST00000303236.7:c.1504G>A	ENSP00000307235.3:p.Asp502Asn
ENST00000415570.1:c.1141G>A	ENSP00000412076.1:p.Asp381Asn
ENST00000419748.5:c.1051G>A	ENSP00000408325.1:p.Asp351Asn
ENST00000652099.1:c.1698G>A
ENST00000652736.1:n.1380G>A
ENST00000682276.1:n.949G>A
ENST00000682892.1:c.1051G>A	ENSP00000507214.1:p.Asp351Asn
ENST00000682952.1:n.1143G>A
ENST00000684455.1:c.717G>A
ENST00000684642.1:c.901G>A	ENSP00000507355.1:p.Asp301Asn
XM_005264649.3:c.820G>A	XP_005264706.1:p.Asp274Asn
XM_017005376.2:c.820G>A	XP_016860865.1:p.Asp274Asn
XR_939749.1:n.1713G>A