Canonical Allele Identifier: CA287552359
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1045137093
gnomAD v2: 17-7989208-C-G
gnomAD v3: 17-8085890-C-G
gnomAD v4: 17-8085890-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8085890C>G , CM000679.2:g.8085890C>G GRCh38
NC_000017.10:g.7989208C>G , CM000679.1:g.7989208C>G GRCh37
NC_000017.9:g.7929933C>G NCBI36
NG_007099.1:g.6814G>C
NG_007099.2:g.6827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.352+126G>C MANE Select ENSP00000497784.1:n.352+126G>C
ENST00000319144.4:c.352+126G>C ENSP00000315167.4:n.352+126G>C
NM_001139.2:c.352+126G>C NP_001130.1:n.352+126G>C
NM_001139.3:c.352+126G>C MANE Select NP_001130.1:n.352+126G>C