Canonical Allele Identifier: CA8367723
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs149354596
gnomAD v2: 17-7989417-C-T
gnomAD v3: 17-8086099-C-T
gnomAD v4: 17-8086099-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086099C>T , CM000679.2:g.8086099C>T GRCh38
NC_000017.10:g.7989417C>T , CM000679.1:g.7989417C>T GRCh37
NC_000017.9:g.7930142C>T NCBI36
NG_007099.1:g.6605G>A
NG_007099.2:g.6618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.269G>A MANE Select ENSP00000497784.1:p.Cys90Tyr
ENST00000319144.4:c.269G>A ENSP00000315167.4:p.Cys90Tyr
NM_001139.2:c.269G>A NP_001130.1:p.Cys90Tyr
NM_001139.3:c.269G>A MANE Select NP_001130.1:p.Cys90Tyr