Canonical Allele Identifier: CA8367742
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs140358107
gnomAD v2: 17-7989524-G-T
gnomAD v4: 17-8086206-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086206G>T , CM000679.2:g.8086206G>T GRCh38
NC_000017.10:g.7989524G>T , CM000679.1:g.7989524G>T GRCh37
NC_000017.9:g.7930249G>T NCBI36
NG_007099.1:g.6498C>A
NG_007099.2:g.6511C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.162C>A MANE Select ENSP00000497784.1:p.Thr54=
ENST00000319144.4:c.162C>A ENSP00000315167.4:p.Thr54=
NM_001139.2:c.162C>A NP_001130.1:p.Thr54=
NM_001139.3:c.162C>A MANE Select NP_001130.1:p.Thr54=