Canonical Allele Identifier: CA347592367
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575258T>A , CM000664.2:g.88575258T>A GRCh38
NC_000002.11:g.88874776T>A , CM000664.1:g.88874776T>A GRCh37
NC_000002.10:g.88655891T>A NCBI36
NG_016424.1:g.57319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2053A>T
ENST00000682276.1:n.1670A>T
ENST00000682892.1:c.1772A>T ENSP00000507214.1:p.Glu591Val
ENST00000682952.1:n.1864A>T
ENST00000684455.1:c.1438A>T
ENST00000684642.1:c.1622A>T ENSP00000507355.1:p.Glu541Val
ENST00000684740.1:n.2403A>T
ENST00000303236.9:c.2225A>T MANE Select ENSP00000307235.3:p.Glu742Val
ENST00000652099.1:c.2419A>T
ENST00000652736.1:n.2101A>T
ENST00000303236.7:c.2225A>T ENSP00000307235.3:p.Glu742Val
ENST00000415570.1:c.1862A>T ENSP00000412076.1:p.Glu621Val
ENST00000419748.5:c.1772A>T ENSP00000408325.1:p.Glu591Val
ENST00000470706.1:n.48+103A>T
NM_001313915.1:c.1772A>T NP_001300844.1:p.Glu591Val
NM_004836.5:c.2225A>T NP_004827.4:p.Glu742Val
NM_004836.6:c.2225A>T NP_004827.4:p.Glu742Val
NR_110236.1:n.1395T>A
XM_005264649.3:c.1541A>T XP_005264706.1:p.Glu514Val
XM_017005376.2:c.1541A>T XP_016860865.1:p.Glu514Val
NM_004836.7:c.2225A>T MANE Select NP_004827.4:p.Glu742Val
NM_001313915.2:c.1772A>T NP_001300844.1:p.Glu591Val