Canonical Allele Identifier: CA397990412

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7979545G>T (hg19) ; chr17:g.8076227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076227G>T , CM000679.2:g.8076227G>T	GRCh38
NC_000017.10:g.7979545G>T , CM000679.1:g.7979545G>T	GRCh37
NC_000017.9:g.7920270G>T	NCBI36
NG_007099.1:g.16477C>A
NG_007099.2:g.16490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1480C>A MANE Select	ENSP00000497784.1:p.Pro494Thr
ENST00000649809.1:c.544C>A	ENSP00000496845.1:p.Pro182Thr
ENST00000319144.4:c.1480C>A	ENSP00000315167.4:p.Pro494Thr
ENST00000577351.5:n.427C>A
ENST00000583276.5:n.864C>A
NM_001139.2:c.1480C>A	NP_001130.1:p.Pro494Thr
NM_001139.3:c.1480C>A MANE Select	NP_001130.1:p.Pro494Thr