Canonical Allele Identifier: CA624868408
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1372116690
gnomAD v2: 17-7979948-C-T
gnomAD v3: 17-8076630-C-T
gnomAD v4: 17-8076630-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076630C>T , CM000679.2:g.8076630C>T GRCh38
NC_000017.10:g.7979948C>T , CM000679.1:g.7979948C>T GRCh37
NC_000017.9:g.7920673C>T NCBI36
NG_007099.1:g.16074G>A
NG_007099.2:g.16087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1362+27G>A MANE Select ENSP00000497784.1:n.1362+27G>A
ENST00000649809.1:c.426+27G>A ENSP00000496845.1:n.426+27G>A
ENST00000319144.4:c.1362+27G>A ENSP00000315167.4:n.1362+27G>A
ENST00000577351.5:n.309+27G>A
ENST00000583276.5:n.746+27G>A
ENST00000584116.1:n.618+27G>A
NM_001139.2:c.1362+27G>A NP_001130.1:n.1362+27G>A
NM_001139.3:c.1362+27G>A MANE Select NP_001130.1:n.1362+27G>A