Canonical Allele Identifier: CA8367734

Gene: ALOX12B

Linked Data

• dbSNP Id: rs772959657
• ExAC: 17:7989484 G / A
• gnomAD v2: 17-7989484-G-A
• gnomAD v3: 17-8086166-G-A
• gnomAD v4: 17-8086166-G-A
• MyVariant Identifiers: chr17:g.7989484G>A (hg19) ; chr17:g.8086166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8086166G>A , CM000679.2:g.8086166G>A	GRCh38
NC_000017.10:g.7989484G>A , CM000679.1:g.7989484G>A	GRCh37
NC_000017.9:g.7930209G>A	NCBI36
NG_007099.1:g.6538C>T
NG_007099.2:g.6551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.202C>T MANE Select	ENSP00000497784.1:p.Arg68Cys
ENST00000319144.4:c.202C>T	ENSP00000315167.4:p.Arg68Cys
NM_001139.2:c.202C>T	NP_001130.1:p.Arg68Cys
NM_001139.3:c.202C>T MANE Select	NP_001130.1:p.Arg68Cys