Canonical Allele Identifier: CA397976673
Gene: ALOXE3 HGNC NCBI

Linked Data

dbSNP Id: rs1202116069
gnomAD v2: 17-8015470-G-A
gnomAD v3: 17-8112152-G-A
gnomAD v4: 17-8112152-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8112152G>A , CM000679.2:g.8112152G>A GRCh38
NC_000017.10:g.8015470G>A , CM000679.1:g.8015470G>A GRCh37
NC_000017.9:g.7956195G>A NCBI36
NG_015807.1:g.11765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318227.4:c.725C>T ENSP00000314879.4:p.Ser242Phe
ENST00000380149.6:c.725C>T ENSP00000369494.2:p.Ser242Phe
ENST00000448843.7:c.725C>T MANE Select ENSP00000400581.2:p.Ser242Phe
ENST00000318227.3:c.1121C>T ENSP00000314879.3:p.Ser374Phe
ENST00000380149.5:c.1193C>T ENSP00000369494.1:p.Ser398Phe
ENST00000448843.6:c.725C>T ENSP00000400581.2:p.Ser242Phe
NM_001165960.1:c.1121C>T NP_001159432.1:p.Ser374Phe
NM_021628.2:c.725C>T NP_067641.2:p.Ser242Phe
XM_017024921.2:c.725C>T XP_016880410.1:p.Ser242Phe
XM_017024922.2:c.725C>T XP_016880411.1:p.Ser242Phe
XM_017024923.2:c.725C>T XP_016880412.1:p.Ser242Phe
XM_017024924.2:c.725C>T XP_016880413.1:p.Ser242Phe
XM_017024925.2:c.725C>T XP_016880414.1:p.Ser242Phe
XR_001752579.2:n.998C>T
XR_001752580.2:n.998C>T
NM_001369446.1:c.722C>T NP_001356375.1:p.Ser241Phe
NM_021628.3:c.725C>T MANE Select NP_067641.2:p.Ser242Phe