Canonical Allele Identifier: CA397990728
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1303494
ClinVar RCV Id: RCV001762952
dbSNP Id: rs2151821808

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076295A>G , CM000679.2:g.8076295A>G GRCh38
NC_000017.10:g.7979613A>G , CM000679.1:g.7979613A>G GRCh37
NC_000017.9:g.7920338A>G NCBI36
NG_007099.1:g.16409T>C
NG_007099.2:g.16422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1412T>C MANE Select ENSP00000497784.1:p.Leu471Pro
ENST00000649809.1:c.476T>C ENSP00000496845.1:p.Leu159Pro
ENST00000319144.4:c.1412T>C ENSP00000315167.4:p.Leu471Pro
ENST00000577351.5:n.359T>C
ENST00000583276.5:n.796T>C
ENST00000584116.1:n.668T>C
NM_001139.2:c.1412T>C NP_001130.1:p.Leu471Pro
NM_001139.3:c.1412T>C MANE Select NP_001130.1:p.Leu471Pro