Canonical Allele Identifier: CA489967794

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40293266G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40001065G>A , CM000677.2:g.40001065G>A	GRCh38
NC_000015.9:g.40293266G>A , CM000677.1:g.40293266G>A	GRCh37
NC_000015.8:g.38080558G>A	NCBI36
NG_034053.1:g.71942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3000G>A MANE Select	ENSP00000263791.5:p.Leu1000=
ENST00000263791.9:c.3000G>A	ENSP00000263791.5:p.Leu1000=
ENST00000558629.5:n.1917G>A
ENST00000560855.5:c.2332G>A
NM_001013703.3:c.3000G>A	NP_001013725.2:p.Leu1000=
XM_005254392.1:c.3000G>A	XP_005254449.1:p.Leu1000=
XM_011521599.1:c.3000G>A	XP_011519901.1:p.Leu1000=
XM_011521600.1:c.3000G>A	XP_011519902.1:p.Leu1000=
XM_005254392.3:c.3000G>A	XP_005254449.1:p.Leu1000=
XM_011521599.2:c.3000G>A	XP_011519901.1:p.Leu1000=
XM_011521600.3:c.3000G>A	XP_011519902.1:p.Leu1000=
XM_017022219.2:c.3000G>A	XP_016877708.1:p.Leu1000=
NM_001013703.4:c.3000G>A MANE Select	NP_001013725.2:p.Leu1000=