Canonical Allele Identifier: CA287552294
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1019059309
gnomAD v2: 17-7989053-G-A
gnomAD v3: 17-8085735-G-A
gnomAD v4: 17-8085735-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8085735G>A , CM000679.2:g.8085735G>A GRCh38
NC_000017.10:g.7989053G>A , CM000679.1:g.7989053G>A GRCh37
NC_000017.9:g.7929778G>A NCBI36
NG_007099.1:g.6969C>T
NG_007099.2:g.6982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.352+281C>T MANE Select ENSP00000497784.1:n.352+281C>T
ENST00000319144.4:c.352+281C>T ENSP00000315167.4:n.352+281C>T
NM_001139.2:c.352+281C>T NP_001130.1:n.352+281C>T
NM_001139.3:c.352+281C>T MANE Select NP_001130.1:n.352+281C>T