Canonical Allele Identifier: CA397989639

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7978940C>T (hg19) ; chr17:g.8075622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075622C>T , CM000679.2:g.8075622C>T	GRCh38
NC_000017.10:g.7978940C>T , CM000679.1:g.7978940C>T	GRCh37
NC_000017.9:g.7919665C>T	NCBI36
NG_007099.1:g.17082G>A
NG_007099.2:g.17095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1627G>A MANE Select	ENSP00000497784.1:p.Glu543Lys
ENST00000649809.1:c.691G>A	ENSP00000496845.1:p.Glu231Lys
ENST00000319144.4:c.1627G>A	ENSP00000315167.4:p.Glu543Lys
ENST00000577351.5:n.479+553G>A
NM_001139.2:c.1627G>A	NP_001130.1:p.Glu543Lys
NM_001139.3:c.1627G>A MANE Select	NP_001130.1:p.Glu543Lys