Canonical Allele Identifier: CA2998088549

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40003758C>G , CM000677.2:g.40003758C>G	GRCh38
NC_000015.9:g.40295959C>G , CM000677.1:g.40295959C>G	GRCh37
NC_000015.8:g.38083251C>G	NCBI36
NG_034053.1:g.74635C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001013703.4:c.3357+444C>G MANE Select	NP_001013725.2:n.3357+444C>G
ENST00000263791.10:c.3357+444C>G MANE Select	ENSP00000263791.5:n.3357+444C>G
NM_001013703.3:c.3357+444C>G	NP_001013725.2:n.3357+444C>G
ENST00000263791.9:c.3357+444C>G	ENSP00000263791.5:n.3357+444C>G
ENST00000558557.1:n.520+444C>G
ENST00000558629.5:n.2274+444C>G
ENST00000559311.5:n.318+444C>G
ENST00000560855.5:c.2689+444C>G
XM_005254392.1:c.3357+444C>G	XP_005254449.1:n.3357+444C>G
XM_005254392.3:c.3357+444C>G	XP_005254449.1:n.3357+444C>G
XM_011521599.1:c.3357+444C>G	XP_011519901.1:n.3357+444C>G
XM_011521599.2:c.3357+444C>G	XP_011519901.1:n.3357+444C>G
XM_011521600.1:c.3357+444C>G	XP_011519902.1:n.3357+444C>G
XM_011521600.3:c.3357+444C>G	XP_011519902.1:n.3357+444C>G
XM_017022219.2:c.3357+444C>G	XP_016877708.1:n.3357+444C>G