Canonical Allele Identifier: CA287526894
Gene: ALOXE3 HGNC NCBI

Linked Data

dbSNP Id: rs1008461889
gnomAD v2: 17-8015437-A-C
gnomAD v4: 17-8112119-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8112119A>C , CM000679.2:g.8112119A>C GRCh38
NC_000017.10:g.8015437A>C , CM000679.1:g.8015437A>C GRCh37
NC_000017.9:g.7956162A>C NCBI36
NG_015807.1:g.11798T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318227.4:c.758T>G ENSP00000314879.4:p.Phe253Cys
ENST00000380149.6:c.758T>G ENSP00000369494.2:p.Phe253Cys
ENST00000448843.7:c.758T>G MANE Select ENSP00000400581.2:p.Phe253Cys
ENST00000318227.3:c.1154T>G ENSP00000314879.3:p.Phe385Cys
ENST00000380149.5:c.1226T>G ENSP00000369494.1:p.Phe409Cys
ENST00000448843.6:c.758T>G ENSP00000400581.2:p.Phe253Cys
NM_001165960.1:c.1154T>G NP_001159432.1:p.Phe385Cys
NM_021628.2:c.758T>G NP_067641.2:p.Phe253Cys
XM_017024921.2:c.758T>G XP_016880410.1:p.Phe253Cys
XM_017024922.2:c.758T>G XP_016880411.1:p.Phe253Cys
XM_017024923.2:c.758T>G XP_016880412.1:p.Phe253Cys
XM_017024924.2:c.758T>G XP_016880413.1:p.Phe253Cys
XM_017024925.2:c.758T>G XP_016880414.1:p.Phe253Cys
XR_001752579.2:n.1031T>G
XR_001752580.2:n.1031T>G
NM_001369446.1:c.755T>G NP_001356375.1:p.Phe252Cys
NM_021628.3:c.758T>G MANE Select NP_067641.2:p.Phe253Cys