Canonical Allele Identifier: CA8367715

Gene: ALOX12B

Linked Data

• ClinVar Variation Id: 325916
• ClinVar RCV Id: RCV000280497 ; RCV003765890
• dbSNP Id: rs200663524
• ExAC: 17:7989385 C / T
• gnomAD v2: 17-7989385-C-T
• gnomAD v3: 17-8086067-C-T
• gnomAD v4: 17-8086067-C-T
• MyVariant Identifiers: chr17:g.7989385C>T (hg19) ; chr17:g.8086067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8086067C>T , CM000679.2:g.8086067C>T	GRCh38
NC_000017.10:g.7989385C>T , CM000679.1:g.7989385C>T	GRCh37
NC_000017.9:g.7930110C>T	NCBI36
NG_007099.1:g.6637G>A
NG_007099.2:g.6650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.301G>A MANE Select	ENSP00000497784.1:p.Ala101Thr
ENST00000319144.4:c.301G>A	ENSP00000315167.4:p.Ala101Thr
NM_001139.2:c.301G>A	NP_001130.1:p.Ala101Thr
NM_001139.3:c.301G>A MANE Select	NP_001130.1:p.Ala101Thr