Canonical Allele Identifier: CA8368314
Gene: ALOXE3 HGNC NCBI

Linked Data

dbSNP Id: rs763088742
gnomAD v2: 17-8015492-C-G
gnomAD v3: 17-8112174-C-G
gnomAD v4: 17-8112174-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8112174C>G , CM000679.2:g.8112174C>G GRCh38
NC_000017.10:g.8015492C>G , CM000679.1:g.8015492C>G GRCh37
NC_000017.9:g.7956217C>G NCBI36
NG_015807.1:g.11743G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318227.4:c.703G>C ENSP00000314879.4:p.Gly235Arg
ENST00000380149.6:c.703G>C ENSP00000369494.2:p.Gly235Arg
ENST00000448843.7:c.703G>C MANE Select ENSP00000400581.2:p.Gly235Arg
ENST00000318227.3:c.1099G>C ENSP00000314879.3:p.Gly367Arg
ENST00000380149.5:c.1171G>C ENSP00000369494.1:p.Gly391Arg
ENST00000448843.6:c.703G>C ENSP00000400581.2:p.Gly235Arg
NM_001165960.1:c.1099G>C NP_001159432.1:p.Gly367Arg
NM_021628.2:c.703G>C NP_067641.2:p.Gly235Arg
XM_017024921.2:c.703G>C XP_016880410.1:p.Gly235Arg
XM_017024922.2:c.703G>C XP_016880411.1:p.Gly235Arg
XM_017024923.2:c.703G>C XP_016880412.1:p.Gly235Arg
XM_017024924.2:c.703G>C XP_016880413.1:p.Gly235Arg
XM_017024925.2:c.703G>C XP_016880414.1:p.Gly235Arg
XR_001752579.2:n.976G>C
XR_001752580.2:n.976G>C
NM_001369446.1:c.700G>C NP_001356375.1:p.Gly234Arg
NM_021628.3:c.703G>C MANE Select NP_067641.2:p.Gly235Arg