Canonical Allele Identifier: CA1754730

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88588760C>G , CM000664.2:g.88588760C>G	GRCh38
NC_000002.11:g.88888278C>G , CM000664.1:g.88888278C>G	GRCh37
NC_000002.10:g.88669393C>G	NCBI36
NG_016424.1:g.43817G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1306+1G>C MANE Select	NP_004827.4:n.1306+1G>C
ENST00000303236.9:c.1306+1G>C MANE Select	ENSP00000307235.3:n.1306+1G>C
NM_001313915.1:c.853+1G>C	NP_001300844.1:n.853+1G>C
NM_001313915.2:c.853+1G>C	NP_001300844.1:n.853+1G>C
NM_004836.5:c.1306+1G>C	NP_004827.4:n.1306+1G>C
NM_004836.6:c.1306+1G>C	NP_004827.4:n.1306+1G>C
ENST00000303236.7:c.1306+1G>C	ENSP00000307235.3:n.1306+1G>C
ENST00000415570.1:c.943+1G>C	ENSP00000412076.1:n.943+1G>C
ENST00000419748.5:c.853+1G>C	ENSP00000408325.1:n.853+1G>C
ENST00000652099.1:c.1500+1G>C
ENST00000652736.1:n.1182+1G>C
ENST00000682276.1:n.751+1G>C
ENST00000682892.1:c.853+1G>C	ENSP00000507214.1:n.853+1G>C
ENST00000682952.1:n.945+1G>C
ENST00000684455.1:c.519+1G>C
ENST00000684642.1:c.703+1G>C	ENSP00000507355.1:n.703+1G>C
XM_005264649.3:c.622+1G>C	XP_005264706.1:n.622+1G>C
XM_017005376.2:c.622+1G>C	XP_016860865.1:n.622+1G>C
XR_939749.1:n.1515+1G>C