Canonical Allele Identifier: CA287543610
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs570087494
gnomAD v2: 17-7979226-C-A
gnomAD v3: 17-8075908-C-A
gnomAD v4: 17-8075908-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075908C>A , CM000679.2:g.8075908C>A GRCh38
NC_000017.10:g.7979226C>A , CM000679.1:g.7979226C>A GRCh37
NC_000017.9:g.7919951C>A NCBI36
NG_007099.1:g.16796G>T
NG_007099.2:g.16809G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1533-192G>T MANE Select ENSP00000497784.1:n.1533-192G>T
ENST00000649809.1:c.597-192G>T ENSP00000496845.1:n.597-192G>T
ENST00000319144.4:c.1533-192G>T ENSP00000315167.4:n.1533-192G>T
ENST00000577351.5:n.479+267G>T
NM_001139.2:c.1533-192G>T NP_001130.1:n.1533-192G>T
NM_001139.3:c.1533-192G>T MANE Select NP_001130.1:n.1533-192G>T