Canonical Allele Identifier: CA397990861

Gene: ALOX12B

Linked Data

• dbSNP Id: rs1567981534
• gnomAD v4: 17-8076314-C-T
• MyVariant Identifiers: chr17:g.7979632C>T (hg19) ; chr17:g.8076314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076314C>T , CM000679.2:g.8076314C>T	GRCh38
NC_000017.10:g.7979632C>T , CM000679.1:g.7979632C>T	GRCh37
NC_000017.9:g.7920357C>T	NCBI36
NG_007099.1:g.16390G>A
NG_007099.2:g.16403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1393G>A MANE Select	ENSP00000497784.1:p.Gly465Arg
ENST00000649809.1:c.457G>A	ENSP00000496845.1:p.Gly153Arg
ENST00000319144.4:c.1393G>A	ENSP00000315167.4:p.Gly465Arg
ENST00000577351.5:n.340G>A
ENST00000583276.5:n.777G>A
ENST00000584116.1:n.649G>A
NM_001139.2:c.1393G>A	NP_001130.1:p.Gly465Arg
NM_001139.3:c.1393G>A MANE Select	NP_001130.1:p.Gly465Arg