Canonical Allele Identifier: CA347595661
Gene: EIF2AK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88590583G>C , CM000664.2:g.88590583G>C GRCh38
NC_000002.11:g.88890101G>C , CM000664.1:g.88890101G>C GRCh37
NC_000002.10:g.88671216G>C NCBI36
NG_016424.1:g.41994C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681996.1:n.2216C>G
ENST00000682276.1:n.480C>G
ENST00000682892.1:c.572C>G ENSP00000507214.1:p.Ala191Gly
ENST00000682952.1:n.664C>G
ENST00000684455.1:c.238C>G
ENST00000684642.1:c.422C>G ENSP00000507355.1:p.Ala141Gly
ENST00000303236.9:c.1025C>G MANE Select ENSP00000307235.3:p.Ala342Gly
ENST00000652099.1:c.1219C>G
ENST00000652736.1:n.901C>G
ENST00000303236.7:c.1025C>G ENSP00000307235.3:p.Ala342Gly
ENST00000415570.1:c.662C>G ENSP00000412076.1:p.Ala221Gly
ENST00000419748.5:c.572C>G ENSP00000408325.1:p.Ala191Gly
NM_001313915.1:c.572C>G NP_001300844.1:p.Ala191Gly
NM_004836.5:c.1025C>G NP_004827.4:p.Ala342Gly
NM_004836.6:c.1025C>G NP_004827.4:p.Ala342Gly
XM_005264649.3:c.341C>G XP_005264706.1:p.Ala114Gly
XR_939749.1:n.1234C>G
XM_017005376.2:c.341C>G XP_016860865.1:p.Ala114Gly
NM_004836.7:c.1025C>G MANE Select NP_004827.4:p.Ala342Gly
NM_001313915.2:c.572C>G NP_001300844.1:p.Ala191Gly