Canonical Allele Identifier: CA624727691
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1196812556
gnomAD v2: 17-7979194-C-T
gnomAD v3: 17-8075876-C-T
gnomAD v4: 17-8075876-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075876C>T , CM000679.2:g.8075876C>T GRCh38
NC_000017.10:g.7979194C>T , CM000679.1:g.7979194C>T GRCh37
NC_000017.9:g.7919919C>T NCBI36
NG_007099.1:g.16828G>A
NG_007099.2:g.16841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1533-160G>A MANE Select ENSP00000497784.1:n.1533-160G>A
ENST00000649809.1:c.597-160G>A ENSP00000496845.1:n.597-160G>A
ENST00000319144.4:c.1533-160G>A ENSP00000315167.4:n.1533-160G>A
ENST00000577351.5:n.479+299G>A
NM_001139.2:c.1533-160G>A NP_001130.1:n.1533-160G>A
NM_001139.3:c.1533-160G>A MANE Select NP_001130.1:n.1533-160G>A