Canonical Allele Identifier: CA8368315
Gene: ALOXE3 HGNC NCBI

Linked Data

dbSNP Id: rs527332706
gnomAD v2: 17-8015494-C-T
gnomAD v3: 17-8112176-C-T
gnomAD v4: 17-8112176-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8112176C>T , CM000679.2:g.8112176C>T GRCh38
NC_000017.10:g.8015494C>T , CM000679.1:g.8015494C>T GRCh37
NC_000017.9:g.7956219C>T NCBI36
NG_015807.1:g.11741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318227.4:c.701G>A ENSP00000314879.4:p.Arg234Gln
ENST00000380149.6:c.701G>A ENSP00000369494.2:p.Arg234Gln
ENST00000448843.7:c.701G>A MANE Select ENSP00000400581.2:p.Arg234Gln
ENST00000318227.3:c.1097G>A ENSP00000314879.3:p.Arg366Gln
ENST00000380149.5:c.1169G>A ENSP00000369494.1:p.Arg390Gln
ENST00000448843.6:c.701G>A ENSP00000400581.2:p.Arg234Gln
NM_001165960.1:c.1097G>A NP_001159432.1:p.Arg366Gln
NM_021628.2:c.701G>A NP_067641.2:p.Arg234Gln
XM_017024921.2:c.701G>A XP_016880410.1:p.Arg234Gln
XM_017024922.2:c.701G>A XP_016880411.1:p.Arg234Gln
XM_017024923.2:c.701G>A XP_016880412.1:p.Arg234Gln
XM_017024924.2:c.701G>A XP_016880413.1:p.Arg234Gln
XM_017024925.2:c.701G>A XP_016880414.1:p.Arg234Gln
XR_001752579.2:n.974G>A
XR_001752580.2:n.974G>A
NM_001369446.1:c.698G>A NP_001356375.1:p.Arg233Gln
NM_021628.3:c.701G>A MANE Select NP_067641.2:p.Arg234Gln