Canonical Allele Identifier: CA391696507

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40308737G>T (hg19) ; chr15:g.40016536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016536G>T , CM000677.2:g.40016536G>T	GRCh38
NC_000015.9:g.40308737G>T , CM000677.1:g.40308737G>T	GRCh37
NC_000015.8:g.38096029G>T	NCBI36
NG_034053.1:g.87413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3794G>T MANE Select	ENSP00000263791.5:p.Gly1265Val
ENST00000263791.9:c.3794G>T	ENSP00000263791.5:p.Gly1265Val
ENST00000558557.1:n.923-572G>T
ENST00000558629.5:n.2711G>T
ENST00000560855.5:c.3126G>T
NM_001013703.3:c.3794G>T	NP_001013725.2:p.Gly1265Val
XM_005254392.1:c.3794G>T	XP_005254449.1:p.Gly1265Val
XM_011521599.1:c.3794G>T	XP_011519901.1:p.Gly1265Val
XM_011521600.1:c.3760-572G>T	XP_011519902.1:n.3760-572G>T
XM_005254392.3:c.3794G>T	XP_005254449.1:p.Gly1265Val
XM_011521599.2:c.3794G>T	XP_011519901.1:p.Gly1265Val
XM_011521600.3:c.3760-572G>T	XP_011519902.1:n.3760-572G>T
XM_017022219.2:c.3760-572G>T	XP_016877708.1:n.3760-572G>T
NM_001013703.4:c.3794G>T MANE Select	NP_001013725.2:p.Gly1265Val