Canonical Allele Identifier: CA397999808
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1978297287
gnomAD v4: 17-8086145-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086145C>T , CM000679.2:g.8086145C>T GRCh38
NC_000017.10:g.7989463C>T , CM000679.1:g.7989463C>T GRCh37
NC_000017.9:g.7930188C>T NCBI36
NG_007099.1:g.6559G>A
NG_007099.2:g.6572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.223G>A MANE Select ENSP00000497784.1:p.Ala75Thr
ENST00000319144.4:c.223G>A ENSP00000315167.4:p.Ala75Thr
NM_001139.2:c.223G>A NP_001130.1:p.Ala75Thr
NM_001139.3:c.223G>A MANE Select NP_001130.1:p.Ala75Thr