Canonical Allele Identifier: CA287540246
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs374183106
gnomAD v4: 17-8075610-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075610C>T , CM000679.2:g.8075610C>T GRCh38
NC_000017.10:g.7978928C>T , CM000679.1:g.7978928C>T GRCh37
NC_000017.9:g.7919653C>T NCBI36
NG_007099.1:g.17094G>A
NG_007099.2:g.17107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1639G>A MANE Select ENSP00000497784.1:p.Gly547Arg
ENST00000649809.1:c.703G>A ENSP00000496845.1:p.Gly235Arg
ENST00000319144.4:c.1639G>A ENSP00000315167.4:p.Gly547Arg
ENST00000577351.5:n.479+565G>A
NM_001139.2:c.1639G>A NP_001130.1:p.Gly547Arg
NM_001139.3:c.1639G>A MANE Select NP_001130.1:p.Gly547Arg