Canonical Allele Identifier: CA10603473
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 280119
ClinVar RCV Id: RCV000267897
dbSNP Id: rs886041394
MyVariant Identifiers: chr17:g.7989434G>T (hg19) chr17:g.8086116G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086116G>T , CM000679.2:g.8086116G>T GRCh38
NC_000017.10:g.7989434G>T , CM000679.1:g.7989434G>T GRCh37
NC_000017.9:g.7930159G>T NCBI36
NG_007099.1:g.6588C>A
NG_007099.2:g.6601C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.252C>A MANE Select ENSP00000497784.1:p.Cys84Ter
ENST00000319144.4:c.252C>A ENSP00000315167.4:p.Cys84Ter
NM_001139.2:c.252C>A NP_001130.1:p.Cys84Ter
NM_001139.3:c.252C>A MANE Select NP_001130.1:p.Cys84Ter
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