Canonical Allele Identifier: CA397976708
Gene: ALOXE3 HGNC NCBI

Linked Data

dbSNP Id: rs1194081207
gnomAD v3: 17-8112158-T-C
gnomAD v4: 17-8112158-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8112158T>C , CM000679.2:g.8112158T>C GRCh38
NC_000017.10:g.8015476T>C , CM000679.1:g.8015476T>C GRCh37
NC_000017.9:g.7956201T>C NCBI36
NG_015807.1:g.11759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318227.4:c.719A>G ENSP00000314879.4:p.Lys240Arg
ENST00000380149.6:c.719A>G ENSP00000369494.2:p.Lys240Arg
ENST00000448843.7:c.719A>G MANE Select ENSP00000400581.2:p.Lys240Arg
ENST00000318227.3:c.1115A>G ENSP00000314879.3:p.Lys372Arg
ENST00000380149.5:c.1187A>G ENSP00000369494.1:p.Lys396Arg
ENST00000448843.6:c.719A>G ENSP00000400581.2:p.Lys240Arg
NM_001165960.1:c.1115A>G NP_001159432.1:p.Lys372Arg
NM_021628.2:c.719A>G NP_067641.2:p.Lys240Arg
XM_017024921.2:c.719A>G XP_016880410.1:p.Lys240Arg
XM_017024922.2:c.719A>G XP_016880411.1:p.Lys240Arg
XM_017024923.2:c.719A>G XP_016880412.1:p.Lys240Arg
XM_017024924.2:c.719A>G XP_016880413.1:p.Lys240Arg
XM_017024925.2:c.719A>G XP_016880414.1:p.Lys240Arg
XR_001752579.2:n.992A>G
XR_001752580.2:n.992A>G
NM_001369446.1:c.716A>G NP_001356375.1:p.Lys239Arg
NM_021628.3:c.719A>G MANE Select NP_067641.2:p.Lys240Arg