Canonical Allele Identifier: CA391685721

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-39978122-A-T
• MyVariant Identifiers: chr15:g.40270323A>T (hg19) ; chr15:g.39978122A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978122A>T , CM000677.2:g.39978122A>T	GRCh38
NC_000015.9:g.40270323A>T , CM000677.1:g.40270323A>T	GRCh37
NC_000015.8:g.38057615A>T	NCBI36
NG_034053.1:g.48999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2294A>T MANE Select	ENSP00000263791.5:p.Asp765Val
ENST00000263791.9:c.2294A>T	ENSP00000263791.5:p.Asp765Val
ENST00000560855.5:c.1710A>T
ENST00000624709.1:n.1144A>T
NM_001013703.3:c.2294A>T	NP_001013725.2:p.Asp765Val
XM_005254392.1:c.2294A>T	XP_005254449.1:p.Asp765Val
XM_011521599.1:c.2294A>T	XP_011519901.1:p.Asp765Val
XM_011521600.1:c.2294A>T	XP_011519902.1:p.Asp765Val
XM_005254392.3:c.2294A>T	XP_005254449.1:p.Asp765Val
XM_011521599.2:c.2294A>T	XP_011519901.1:p.Asp765Val
XM_011521600.3:c.2294A>T	XP_011519902.1:p.Asp765Val
XM_017022219.2:c.2294A>T	XP_016877708.1:p.Asp765Val
NM_001013703.4:c.2294A>T MANE Select	NP_001013725.2:p.Asp765Val