Canonical Allele Identifier: CA391695946

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40008196G>A , CM000677.2:g.40008196G>A	GRCh38
NC_000015.9:g.40300397G>A , CM000677.1:g.40300397G>A	GRCh37
NC_000015.8:g.38087689G>A	NCBI36
NG_034053.1:g.79073G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001013703.4:c.3576+1G>A MANE Select	NP_001013725.2:n.3576+1G>A
ENST00000263791.10:c.3576+1G>A MANE Select	ENSP00000263791.5:n.3576+1G>A
NM_001013703.3:c.3576+1G>A	NP_001013725.2:n.3576+1G>A
ENST00000263791.9:c.3576+1G>A	ENSP00000263791.5:n.3576+1G>A
ENST00000558557.1:n.739+1G>A
ENST00000558629.5:n.2493+1G>A
ENST00000560855.5:c.2908+1G>A
XM_005254392.1:c.3576+1G>A	XP_005254449.1:n.3576+1G>A
XM_005254392.3:c.3576+1G>A	XP_005254449.1:n.3576+1G>A
XM_011521599.1:c.3576+1G>A	XP_011519901.1:n.3576+1G>A
XM_011521599.2:c.3576+1G>A	XP_011519901.1:n.3576+1G>A
XM_011521600.1:c.3576+1G>A	XP_011519902.1:n.3576+1G>A
XM_011521600.3:c.3576+1G>A	XP_011519902.1:n.3576+1G>A
XM_017022219.2:c.3576+1G>A	XP_016877708.1:n.3576+1G>A