Canonical Allele Identifier: CA497762864
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1469406795
gnomAD v3: 17-8086029-G-A
gnomAD v4: 17-8086029-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086029G>A , CM000679.2:g.8086029G>A GRCh38
NC_000017.10:g.7989347G>A , CM000679.1:g.7989347G>A GRCh37
NC_000017.9:g.7930072G>A NCBI36
NG_007099.1:g.6675C>T
NG_007099.2:g.6688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.339C>T MANE Select ENSP00000497784.1:p.Leu113=
ENST00000319144.4:c.339C>T ENSP00000315167.4:p.Leu113=
NM_001139.2:c.339C>T NP_001130.1:p.Leu113=
NM_001139.3:c.339C>T MANE Select NP_001130.1:p.Leu113=