Canonical Allele Identifier: CA397990987

Gene: ALOX12B

Linked Data

• dbSNP Id: rs760407503
• gnomAD v4: 17-8076332-C-A
• MyVariant Identifiers: chr17:g.7979650C>A (hg19) ; chr17:g.8076332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076332C>A , CM000679.2:g.8076332C>A	GRCh38
NC_000017.10:g.7979650C>A , CM000679.1:g.7979650C>A	GRCh37
NC_000017.9:g.7920375C>A	NCBI36
NG_007099.1:g.16372G>T
NG_007099.2:g.16385G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647874.1:c.1375G>T MANE Select	ENSP00000497784.1:p.Gly459Cys
ENST00000649809.1:c.439G>T	ENSP00000496845.1:p.Gly147Cys
ENST00000319144.4:c.1375G>T	ENSP00000315167.4:p.Gly459Cys
ENST00000577351.5:n.322G>T
ENST00000583276.5:n.759G>T
ENST00000584116.1:n.631G>T
NM_001139.2:c.1375G>T	NP_001130.1:p.Gly459Cys
NM_001139.3:c.1375G>T MANE Select	NP_001130.1:p.Gly459Cys