Canonical Allele Identifier: CA8367317
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs563699979
gnomAD v2: 17-7979648-G-A
gnomAD v3: 17-8076330-G-A
gnomAD v4: 17-8076330-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076330G>A , CM000679.2:g.8076330G>A GRCh38
NC_000017.10:g.7979648G>A , CM000679.1:g.7979648G>A GRCh37
NC_000017.9:g.7920373G>A NCBI36
NG_007099.1:g.16374C>T
NG_007099.2:g.16387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1377C>T MANE Select ENSP00000497784.1:p.Gly459=
ENST00000649809.1:c.441C>T ENSP00000496845.1:p.Gly147=
ENST00000319144.4:c.1377C>T ENSP00000315167.4:p.Gly459=
ENST00000577351.5:n.324C>T
ENST00000583276.5:n.761C>T
ENST00000584116.1:n.633C>T
NM_001139.2:c.1377C>T NP_001130.1:p.Gly459=
NM_001139.3:c.1377C>T MANE Select NP_001130.1:p.Gly459=