Canonical Allele Identifier: CA397990605

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7979589A>T (hg19) ; chr17:g.8076271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076271A>T , CM000679.2:g.8076271A>T	GRCh38
NC_000017.10:g.7979589A>T , CM000679.1:g.7979589A>T	GRCh37
NC_000017.9:g.7920314A>T	NCBI36
NG_007099.1:g.16433T>A
NG_007099.2:g.16446T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1436T>A MANE Select	ENSP00000497784.1:p.Leu479His
ENST00000649809.1:c.500T>A	ENSP00000496845.1:p.Leu167His
ENST00000319144.4:c.1436T>A	ENSP00000315167.4:p.Leu479His
ENST00000577351.5:n.383T>A
ENST00000583276.5:n.820T>A
NM_001139.2:c.1436T>A	NP_001130.1:p.Leu479His
NM_001139.3:c.1436T>A MANE Select	NP_001130.1:p.Leu479His