Canonical Allele Identifier: CA8367733
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 2330876
ClinVar RCV Id: RCV002935190
dbSNP Id: rs769533529
ExAC: 17:7989483 C / T
gnomAD v2: 17-7989483-C-T
gnomAD v3: 17-8086165-C-T
gnomAD v4: 17-8086165-C-T
MyVariant Identifiers: chr17:g.7989483C>T (hg19) chr17:g.8086165C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086165C>T , CM000679.2:g.8086165C>T GRCh38
NC_000017.10:g.7989483C>T , CM000679.1:g.7989483C>T GRCh37
NC_000017.9:g.7930208C>T NCBI36
NG_007099.1:g.6539G>A
NG_007099.2:g.6552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.203G>A MANE Select ENSP00000497784.1:p.Arg68His
ENST00000319144.4:c.203G>A ENSP00000315167.4:p.Arg68His
NM_001139.2:c.203G>A NP_001130.1:p.Arg68His
NM_001139.3:c.203G>A MANE Select NP_001130.1:p.Arg68His
Search 100 bp 5'
Search 100 bp 3'