Canonical Allele Identifier: CA261173

Gene: ALOX12B

Linked Data

• ClinVar Variation Id: 39546
• ClinVar RCV Id: RCV000032744 ; RCV000413764 ; RCV000414880 ; RCV002222361
• dbSNP Id: rs199766569
• ExAC: 17:7979005 T / C
• gnomAD v2: 17-7979005-T-C
• gnomAD v3: 17-8075687-T-C
• gnomAD v4: 17-8075687-T-C
• COSMIC: COSM3691939 ; COSM3691940
• MyVariant Identifiers: chr17:g.7979005T>C (hg19) ; chr17:g.8075687T>C (hg38)
• PubMed: PMID:16116617 ; PMID:19131948 ; PMID:19890349 ; PMID:22622417 ; PMID:23290633

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075687T>C , CM000679.2:g.8075687T>C	GRCh38
NC_000017.10:g.7979005T>C , CM000679.1:g.7979005T>C	GRCh37
NC_000017.9:g.7919730T>C	NCBI36
NG_007099.1:g.17017A>G
NG_007099.2:g.17030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1562A>G MANE Select	ENSP00000497784.1:p.Tyr521Cys
ENST00000649809.1:c.626A>G	ENSP00000496845.1:p.Tyr209Cys
ENST00000319144.4:c.1562A>G	ENSP00000315167.4:p.Tyr521Cys
ENST00000577351.5:n.479+488A>G
NM_001139.2:c.1562A>G	NP_001130.1:p.Tyr521Cys
NM_001139.3:c.1562A>G MANE Select	NP_001130.1:p.Tyr521Cys