Canonical Allele Identifier: CA397989553
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 995723
ClinVar RCV Id: RCV001289929
dbSNP Id: rs1977062403
MyVariant Identifiers: chr17:g.7978933A>C (hg19) chr17:g.8075615A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075615A>C , CM000679.2:g.8075615A>C GRCh38
NC_000017.10:g.7978933A>C , CM000679.1:g.7978933A>C GRCh37
NC_000017.9:g.7919658A>C NCBI36
NG_007099.1:g.17089T>G
NG_007099.2:g.17102T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1634T>G MANE Select ENSP00000497784.1:p.Leu545Arg
ENST00000649809.1:c.698T>G ENSP00000496845.1:p.Leu233Arg
ENST00000319144.4:c.1634T>G ENSP00000315167.4:p.Leu545Arg
ENST00000577351.5:n.479+560T>G
NM_001139.2:c.1634T>G NP_001130.1:p.Leu545Arg
NM_001139.3:c.1634T>G MANE Select NP_001130.1:p.Leu545Arg
Search 100 bp 5'
Search 100 bp 3'