Canonical Allele Identifier: CA287552656
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs139490887
gnomAD v2: 17-7989525-G-A
gnomAD v4: 17-8086207-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086207G>A , CM000679.2:g.8086207G>A GRCh38
NC_000017.10:g.7989525G>A , CM000679.1:g.7989525G>A GRCh37
NC_000017.9:g.7930250G>A NCBI36
NG_007099.1:g.6497C>T
NG_007099.2:g.6510C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.161C>T MANE Select ENSP00000497784.1:p.Thr54Ile
ENST00000319144.4:c.161C>T ENSP00000315167.4:p.Thr54Ile
NM_001139.2:c.161C>T NP_001130.1:p.Thr54Ile
NM_001139.3:c.161C>T MANE Select NP_001130.1:p.Thr54Ile