Canonical Allele Identifier: CA1268208216
Community Standard Title: NM_004836.7(EIF2AK3):c.2110G= (p.Ala704=)
Gene: EIF2AK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575373C= , CM000664.2:g.88575373C= GRCh38
NC_000002.11:g.88874891C= , CM000664.1:g.88874891C= GRCh37
NC_000002.10:g.88656006C= NCBI36
NG_016424.1:g.57204G=

Transcript Alleles

HGVS Amino-acid Change
NM_004836.7:c.2110G= MANE Select NP_004827.4:p.Ala704=
ENST00000303236.9:c.2110G= MANE Select ENSP00000307235.3:p.Ala704=
NM_001313915.1:c.1657G= NP_001300844.1:p.Ala553=
NM_001313915.2:c.1657G= NP_001300844.1:p.Ala553=
NM_004836.5:c.2110G= NP_004827.4:p.Ala704=
NM_004836.6:c.2110G= NP_004827.4:p.Ala704=
NR_110236.1:n.1510C=
ENST00000303236.7:c.2110G= ENSP00000307235.3:p.Ala704=
ENST00000415570.1:c.1747G= ENSP00000412076.1:p.Ala583=
ENST00000419748.5:c.1657G= ENSP00000408325.1:p.Ala553=
ENST00000470706.1:n.36G=
ENST00000478003.2:n.1938G=
ENST00000652099.1:c.2304G=
ENST00000652736.1:n.1986G=
ENST00000682276.1:n.1555G=
ENST00000682892.1:c.1657G= ENSP00000507214.1:p.Ala553=
ENST00000682952.1:n.1749G=
ENST00000684455.1:c.1323G=
ENST00000684642.1:c.1507G= ENSP00000507355.1:p.Ala503=
ENST00000684740.1:n.2288G=
XM_005264649.3:c.1426G= XP_005264706.1:p.Ala476=
XM_017005376.2:c.1426G= XP_016860865.1:p.Ala476=
XR_939749.1:n.2389G=