Canonical Allele Identifier: CA8367726
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs746274871
gnomAD v2: 17-7989427-C-T
gnomAD v3: 17-8086109-C-T
gnomAD v4: 17-8086109-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086109C>T , CM000679.2:g.8086109C>T GRCh38
NC_000017.10:g.7989427C>T , CM000679.1:g.7989427C>T GRCh37
NC_000017.9:g.7930152C>T NCBI36
NG_007099.1:g.6595G>A
NG_007099.2:g.6608G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.259G>A MANE Select ENSP00000497784.1:p.Val87Met
ENST00000319144.4:c.259G>A ENSP00000315167.4:p.Val87Met
NM_001139.2:c.259G>A NP_001130.1:p.Val87Met
NM_001139.3:c.259G>A MANE Select NP_001130.1:p.Val87Met