Canonical Allele Identifier: CA287526903

Gene: ALOXE3

Linked Data

• ClinVar Variation Id: 1029817
• ClinVar RCV Id: RCV001331194
• dbSNP Id: rs1046226453
• gnomAD v3: 17-8112162-G-A
• gnomAD v4: 17-8112162-G-A
• COSMIC: COSM1644384 ; COSM1644385
• MyVariant Identifiers: chr17:g.8015480G>A (hg19) ; chr17:g.8112162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8112162G>A , CM000679.2:g.8112162G>A	GRCh38
NC_000017.10:g.8015480G>A , CM000679.1:g.8015480G>A	GRCh37
NC_000017.9:g.7956205G>A	NCBI36
NG_015807.1:g.11755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318227.4:c.715C>T	ENSP00000314879.4:p.Arg239Cys
ENST00000380149.6:c.715C>T	ENSP00000369494.2:p.Arg239Cys
ENST00000448843.7:c.715C>T MANE Select	ENSP00000400581.2:p.Arg239Cys
ENST00000318227.3:c.1111C>T	ENSP00000314879.3:p.Arg371Cys
ENST00000380149.5:c.1183C>T	ENSP00000369494.1:p.Arg395Cys
ENST00000448843.6:c.715C>T	ENSP00000400581.2:p.Arg239Cys
NM_001165960.1:c.1111C>T	NP_001159432.1:p.Arg371Cys
NM_021628.2:c.715C>T	NP_067641.2:p.Arg239Cys
XM_017024921.2:c.715C>T	XP_016880410.1:p.Arg239Cys
XM_017024922.2:c.715C>T	XP_016880411.1:p.Arg239Cys
XM_017024923.2:c.715C>T	XP_016880412.1:p.Arg239Cys
XM_017024924.2:c.715C>T	XP_016880413.1:p.Arg239Cys
XM_017024925.2:c.715C>T	XP_016880414.1:p.Arg239Cys
XR_001752579.2:n.988C>T
XR_001752580.2:n.988C>T
NM_001369446.1:c.712C>T	NP_001356375.1:p.Arg238Cys
NM_021628.3:c.715C>T MANE Select	NP_067641.2:p.Arg239Cys