Canonical Allele Identifier: CA398000030
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1314147344
gnomAD v3: 17-8086189-T-A
gnomAD v4: 17-8086189-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086189T>A , CM000679.2:g.8086189T>A GRCh38
NC_000017.10:g.7989507T>A , CM000679.1:g.7989507T>A GRCh37
NC_000017.9:g.7930232T>A NCBI36
NG_007099.1:g.6515A>T
NG_007099.2:g.6528A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.179A>T MANE Select ENSP00000497784.1:p.Asp60Val
ENST00000319144.4:c.179A>T ENSP00000315167.4:p.Asp60Val
NM_001139.2:c.179A>T NP_001130.1:p.Asp60Val
NM_001139.3:c.179A>T MANE Select NP_001130.1:p.Asp60Val