Canonical Allele Identifier: CA397990941

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7979642T>A (hg19) ; chr17:g.8076324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076324T>A , CM000679.2:g.8076324T>A	GRCh38
NC_000017.10:g.7979642T>A , CM000679.1:g.7979642T>A	GRCh37
NC_000017.9:g.7920367T>A	NCBI36
NG_007099.1:g.16380A>T
NG_007099.2:g.16393A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1383A>T MANE Select	ENSP00000497784.1:p.Glu461Asp
ENST00000649809.1:c.447A>T	ENSP00000496845.1:p.Glu149Asp
ENST00000319144.4:c.1383A>T	ENSP00000315167.4:p.Glu461Asp
ENST00000577351.5:n.330A>T
ENST00000583276.5:n.767A>T
ENST00000584116.1:n.639A>T
NM_001139.2:c.1383A>T	NP_001130.1:p.Glu461Asp
NM_001139.3:c.1383A>T MANE Select	NP_001130.1:p.Glu461Asp