Canonical Allele Identifier: CA347591760
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575127C>T , CM000664.2:g.88575127C>T GRCh38
NC_000002.11:g.88874645C>T , CM000664.1:g.88874645C>T GRCh37
NC_000002.10:g.88655760C>T NCBI36
NG_016424.1:g.57450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2184G>A
ENST00000682276.1:n.1801G>A
ENST00000682892.1:c.1903G>A ENSP00000507214.1:p.Glu635Lys
ENST00000682952.1:n.1995G>A
ENST00000684455.1:c.1569G>A
ENST00000684642.1:c.1753G>A ENSP00000507355.1:p.Glu585Lys
ENST00000684740.1:n.2534G>A
ENST00000303236.9:c.2356G>A MANE Select ENSP00000307235.3:p.Glu786Lys
ENST00000652099.1:c.2550G>A
ENST00000652736.1:n.2232G>A
ENST00000303236.7:c.2356G>A ENSP00000307235.3:p.Glu786Lys
ENST00000415570.1:c.1993G>A ENSP00000412076.1:p.Glu665Lys
ENST00000419748.5:c.1903G>A ENSP00000408325.1:p.Glu635Lys
ENST00000470706.1:n.49-50G>A
NM_001313915.1:c.1903G>A NP_001300844.1:p.Glu635Lys
NM_004836.5:c.2356G>A NP_004827.4:p.Glu786Lys
NM_004836.6:c.2356G>A NP_004827.4:p.Glu786Lys
NR_110236.1:n.1264C>T
XM_005264649.3:c.1672G>A XP_005264706.1:p.Glu558Lys
XM_017005376.2:c.1672G>A XP_016860865.1:p.Glu558Lys
NM_004836.7:c.2356G>A MANE Select NP_004827.4:p.Glu786Lys
NM_001313915.2:c.1903G>A NP_001300844.1:p.Glu635Lys