Canonical Allele Identifier: CA497757477
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs779160373
gnomAD v2: 17-7978926-C-A
gnomAD v3: 17-8075608-C-A
gnomAD v4: 17-8075608-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075608C>A , CM000679.2:g.8075608C>A GRCh38
NC_000017.10:g.7978926C>A , CM000679.1:g.7978926C>A GRCh37
NC_000017.9:g.7919651C>A NCBI36
NG_007099.1:g.17096G>T
NG_007099.2:g.17109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1641G>T MANE Select ENSP00000497784.1:p.Gly547=
ENST00000649809.1:c.705G>T ENSP00000496845.1:p.Gly235=
ENST00000319144.4:c.1641G>T ENSP00000315167.4:p.Gly547=
ENST00000577351.5:n.479+567G>T
NM_001139.2:c.1641G>T NP_001130.1:p.Gly547=
NM_001139.3:c.1641G>T MANE Select NP_001130.1:p.Gly547=