Canonical Allele Identifier: CA116202

Gene: ALOXE3

Linked Data

• ClinVar Variation Id: 3410
• ClinVar RCV Id: RCV000003579 ; RCV000883523 ; RCV001804712
• dbSNP Id: rs121434235
• ExAC: 17:8015486 A / T
• gnomAD v2: 17-8015486-A-T
• gnomAD v3: 17-8112168-A-T
• gnomAD v4: 17-8112168-A-T
• MyVariant Identifiers: chr17:g.8015486A>T (hg19) ; chr17:g.8112168A>T (hg38)
• PubMed: PMID:16116617 ; PMID:19131948

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8112168A>T , CM000679.2:g.8112168A>T	GRCh38
NC_000017.10:g.8015486A>T , CM000679.1:g.8015486A>T	GRCh37
NC_000017.9:g.7956211A>T	NCBI36
NG_015807.1:g.11749T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318227.4:c.709T>A	ENSP00000314879.4:p.Leu237Met
ENST00000380149.6:c.709T>A	ENSP00000369494.2:p.Leu237Met
ENST00000448843.7:c.709T>A MANE Select	ENSP00000400581.2:p.Leu237Met
ENST00000318227.3:c.1105T>A	ENSP00000314879.3:p.Leu369Met
ENST00000380149.5:c.1177T>A	ENSP00000369494.1:p.Leu393Met
ENST00000448843.6:c.709T>A	ENSP00000400581.2:p.Leu237Met
NM_001165960.1:c.1105T>A	NP_001159432.1:p.Leu369Met
NM_021628.2:c.709T>A	NP_067641.2:p.Leu237Met
XM_017024921.2:c.709T>A	XP_016880410.1:p.Leu237Met
XM_017024922.2:c.709T>A	XP_016880411.1:p.Leu237Met
XM_017024923.2:c.709T>A	XP_016880412.1:p.Leu237Met
XM_017024924.2:c.709T>A	XP_016880413.1:p.Leu237Met
XM_017024925.2:c.709T>A	XP_016880414.1:p.Leu237Met
XR_001752579.2:n.982T>A
XR_001752580.2:n.982T>A
NM_001369446.1:c.706T>A	NP_001356375.1:p.Leu236Met
NM_021628.3:c.709T>A MANE Select	NP_067641.2:p.Leu237Met