Canonical Allele Identifier: CA397976513

Gene: ALOXE3

Linked Data

• gnomAD v4: 17-8112129-G-T
• MyVariant Identifiers: chr17:g.8015447G>T (hg19) ; chr17:g.8112129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8112129G>T , CM000679.2:g.8112129G>T	GRCh38
NC_000017.10:g.8015447G>T , CM000679.1:g.8015447G>T	GRCh37
NC_000017.9:g.7956172G>T	NCBI36
NG_015807.1:g.11788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318227.4:c.748C>A	ENSP00000314879.4:p.Gln250Lys
ENST00000380149.6:c.748C>A	ENSP00000369494.2:p.Gln250Lys
ENST00000448843.7:c.748C>A MANE Select	ENSP00000400581.2:p.Gln250Lys
ENST00000318227.3:c.1144C>A	ENSP00000314879.3:p.Gln382Lys
ENST00000380149.5:c.1216C>A	ENSP00000369494.1:p.Gln406Lys
ENST00000448843.6:c.748C>A	ENSP00000400581.2:p.Gln250Lys
NM_001165960.1:c.1144C>A	NP_001159432.1:p.Gln382Lys
NM_021628.2:c.748C>A	NP_067641.2:p.Gln250Lys
XM_017024921.2:c.748C>A	XP_016880410.1:p.Gln250Lys
XM_017024922.2:c.748C>A	XP_016880411.1:p.Gln250Lys
XM_017024923.2:c.748C>A	XP_016880412.1:p.Gln250Lys
XM_017024924.2:c.748C>A	XP_016880413.1:p.Gln250Lys
XM_017024925.2:c.748C>A	XP_016880414.1:p.Gln250Lys
XR_001752579.2:n.1021C>A
XR_001752580.2:n.1021C>A
NM_001369446.1:c.745C>A	NP_001356375.1:p.Gln249Lys
NM_021628.3:c.748C>A MANE Select	NP_067641.2:p.Gln250Lys