Canonical Allele Identifier: CA397999588

Gene: ALOX12B

Linked Data

• gnomAD v4: 17-8086118-A-G
• MyVariant Identifiers: chr17:g.7989436A>G (hg19) ; chr17:g.8086118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8086118A>G , CM000679.2:g.8086118A>G	GRCh38
NC_000017.10:g.7989436A>G , CM000679.1:g.7989436A>G	GRCh37
NC_000017.9:g.7930161A>G	NCBI36
NG_007099.1:g.6586T>C
NG_007099.2:g.6599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.250T>C MANE Select	ENSP00000497784.1:p.Cys84Arg
ENST00000319144.4:c.250T>C	ENSP00000315167.4:p.Cys84Arg
NM_001139.2:c.250T>C	NP_001130.1:p.Cys84Arg
NM_001139.3:c.250T>C MANE Select	NP_001130.1:p.Cys84Arg