Canonical Allele Identifier: CA397989795

Gene: ALOX12B

Linked Data

• MyVariant Identifiers: chr17:g.7978960C>A (hg19) ; chr17:g.8075642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075642C>A , CM000679.2:g.8075642C>A	GRCh38
NC_000017.10:g.7978960C>A , CM000679.1:g.7978960C>A	GRCh37
NC_000017.9:g.7919685C>A	NCBI36
NG_007099.1:g.17062G>T
NG_007099.2:g.17075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1607G>T MANE Select	ENSP00000497784.1:p.Trp536Leu
ENST00000649809.1:c.671G>T	ENSP00000496845.1:p.Trp224Leu
ENST00000319144.4:c.1607G>T	ENSP00000315167.4:p.Trp536Leu
ENST00000577351.5:n.479+533G>T
NM_001139.2:c.1607G>T	NP_001130.1:p.Trp536Leu
NM_001139.3:c.1607G>T MANE Select	NP_001130.1:p.Trp536Leu