Canonical Allele Identifier: CA397989585
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 995485
ClinVar RCV Id: RCV001289518
dbSNP Id: rs1364754878
MyVariant Identifiers: chr17:g.7978937A>G (hg19) chr17:g.8075619A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075619A>G , CM000679.2:g.8075619A>G GRCh38
NC_000017.10:g.7978937A>G , CM000679.1:g.7978937A>G GRCh37
NC_000017.9:g.7919662A>G NCBI36
NG_007099.1:g.17085T>C
NG_007099.2:g.17098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1630T>C MANE Select ENSP00000497784.1:p.Cys544Arg
ENST00000649809.1:c.694T>C ENSP00000496845.1:p.Cys232Arg
ENST00000319144.4:c.1630T>C ENSP00000315167.4:p.Cys544Arg
ENST00000577351.5:n.479+556T>C
NM_001139.2:c.1630T>C NP_001130.1:p.Cys544Arg
NM_001139.3:c.1630T>C MANE Select NP_001130.1:p.Cys544Arg
Search 100 bp 5'
Search 100 bp 3'