Canonical Allele Identifier: CA397999769
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 891969
ClinVar RCV Id: RCV001127619
dbSNP Id: rs1978297242

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086140G>T , CM000679.2:g.8086140G>T GRCh38
NC_000017.10:g.7989458G>T , CM000679.1:g.7989458G>T GRCh37
NC_000017.9:g.7930183G>T NCBI36
NG_007099.1:g.6564C>A
NG_007099.2:g.6577C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.228C>A MANE Select ENSP00000497784.1:p.Phe76Leu
ENST00000319144.4:c.228C>A ENSP00000315167.4:p.Phe76Leu
NM_001139.2:c.228C>A NP_001130.1:p.Phe76Leu
NM_001139.3:c.228C>A MANE Select NP_001130.1:p.Phe76Leu