Canonical Allele Identifier: CA391685802

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978148G>T , CM000677.2:g.39978148G>T	GRCh38
NC_000015.9:g.40270349G>T , CM000677.1:g.40270349G>T	GRCh37
NC_000015.8:g.38057641G>T	NCBI36
NG_034053.1:g.49025G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001013703.4:c.2319+1G>T MANE Select	NP_001013725.2:n.2319+1G>T
ENST00000263791.10:c.2319+1G>T MANE Select	ENSP00000263791.5:n.2319+1G>T
NM_001013703.3:c.2319+1G>T	NP_001013725.2:n.2319+1G>T
ENST00000263791.9:c.2319+1G>T	ENSP00000263791.5:n.2319+1G>T
ENST00000560855.5:c.1735+1G>T
ENST00000624709.1:n.1170G>T
XM_005254392.1:c.2319+1G>T	XP_005254449.1:n.2319+1G>T
XM_005254392.3:c.2319+1G>T	XP_005254449.1:n.2319+1G>T
XM_011521599.1:c.2319+1G>T	XP_011519901.1:n.2319+1G>T
XM_011521599.2:c.2319+1G>T	XP_011519901.1:n.2319+1G>T
XM_011521600.1:c.2319+1G>T	XP_011519902.1:n.2319+1G>T
XM_011521600.3:c.2319+1G>T	XP_011519902.1:n.2319+1G>T
XM_017022219.2:c.2319+1G>T	XP_016877708.1:n.2319+1G>T