Canonical Allele Identifier: CA152715

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88613755G>C , CM000664.2:g.88613755G>C	GRCh38
NC_000002.11:g.88913273G>C , CM000664.1:g.88913273G>C	GRCh37
NC_000002.10:g.88694388G>C	NCBI36
NG_016424.1:g.18822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682892.1:c.-47C>G	ENSP00000507214.1:n.-47C>G
ENST00000303236.9:c.407C>G MANE Select	ENSP00000307235.3:p.Ser136Cys
ENST00000652099.1:c.405C>G
ENST00000652423.1:c.*91C>G	ENSP00000498948.1:n.*91C>G
ENST00000652736.1:n.283C>G
ENST00000303236.7:c.407C>G	ENSP00000307235.3:p.Ser136Cys
ENST00000419748.5:c.-47C>G	ENSP00000408325.1:n.-47C>G
NM_001313915.1:c.-47C>G	NP_001300844.1:n.-47C>G
NM_004836.5:c.407C>G	NP_004827.4:p.Ser136Cys
NM_004836.6:c.407C>G	NP_004827.4:p.Ser136Cys
XR_939749.1:n.616C>G
XM_017005376.2:c.-474C>G	XP_016860865.1:n.-474C>G
NM_004836.7:c.407C>G MANE Select	NP_004827.4:p.Ser136Cys
NM_001313915.2:c.-47C>G	NP_001300844.1:n.-47C>G