Canonical Allele Identifier: CA261173
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 39546
dbSNP Id: rs199766569
gnomAD v2: 17-7979005-T-C
gnomAD v3: 17-8075687-T-C
gnomAD v4: 17-8075687-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075687T>C , CM000679.2:g.8075687T>C GRCh38
NC_000017.10:g.7979005T>C , CM000679.1:g.7979005T>C GRCh37
NC_000017.9:g.7919730T>C NCBI36
NG_007099.1:g.17017A>G
NG_007099.2:g.17030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1562A>G MANE Select ENSP00000497784.1:p.Tyr521Cys
ENST00000649809.1:c.626A>G ENSP00000496845.1:p.Tyr209Cys
ENST00000319144.4:c.1562A>G ENSP00000315167.4:p.Tyr521Cys
ENST00000577351.5:n.479+488A>G
NM_001139.2:c.1562A>G NP_001130.1:p.Tyr521Cys
NM_001139.3:c.1562A>G MANE Select NP_001130.1:p.Tyr521Cys