Canonical Allele Identifier: CA397989918

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7978993G>A (hg19) ; chr17:g.8075675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075675G>A , CM000679.2:g.8075675G>A	GRCh38
NC_000017.10:g.7978993G>A , CM000679.1:g.7978993G>A	GRCh37
NC_000017.9:g.7919718G>A	NCBI36
NG_007099.1:g.17029C>T
NG_007099.2:g.17042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1574C>T MANE Select	ENSP00000497784.1:p.Ala525Val
ENST00000649809.1:c.638C>T	ENSP00000496845.1:p.Ala213Val
ENST00000319144.4:c.1574C>T	ENSP00000315167.4:p.Ala525Val
ENST00000577351.5:n.479+500C>T
NM_001139.2:c.1574C>T	NP_001130.1:p.Ala525Val
NM_001139.3:c.1574C>T MANE Select	NP_001130.1:p.Ala525Val