Canonical Allele Identifier: CA8367300
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs752459387
gnomAD v2: 17-7979579-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076261G>A , CM000679.2:g.8076261G>A GRCh38
NC_000017.10:g.7979579G>A , CM000679.1:g.7979579G>A GRCh37
NC_000017.9:g.7920304G>A NCBI36
NG_007099.1:g.16443C>T
NG_007099.2:g.16456C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1446C>T MANE Select ENSP00000497784.1:p.Pro482=
ENST00000649809.1:c.510C>T ENSP00000496845.1:p.Pro170=
ENST00000319144.4:c.1446C>T ENSP00000315167.4:p.Pro482=
ENST00000577351.5:n.393C>T
ENST00000583276.5:n.830C>T
NM_001139.2:c.1446C>T NP_001130.1:p.Pro482=
NM_001139.3:c.1446C>T MANE Select NP_001130.1:p.Pro482=