Canonical Allele Identifier: CA397999800
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1220180667
gnomAD v2: 17-7989462-G-A
gnomAD v3: 17-8086144-G-A
gnomAD v4: 17-8086144-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086144G>A , CM000679.2:g.8086144G>A GRCh38
NC_000017.10:g.7989462G>A , CM000679.1:g.7989462G>A GRCh37
NC_000017.9:g.7930187G>A NCBI36
NG_007099.1:g.6560C>T
NG_007099.2:g.6573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.224C>T MANE Select ENSP00000497784.1:p.Ala75Val
ENST00000319144.4:c.224C>T ENSP00000315167.4:p.Ala75Val
NM_001139.2:c.224C>T NP_001130.1:p.Ala75Val
NM_001139.3:c.224C>T MANE Select NP_001130.1:p.Ala75Val