Canonical Allele Identifier: CA261171
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 39545
ClinVar RCV Id: RCV000032743 RCV000414417 RCV000626762 RCV002509181
dbSNP Id: rs397514532
ExAC: 17:7978925 G / A
gnomAD v2: 17-7978925-G-A
gnomAD v3: 17-8075607-G-A
gnomAD v4: 17-8075607-G-A
COSMIC: COSM985928 COSM4868265
MyVariant Identifiers: chr17:g.7978925G>A (hg19) chr17:g.8075607G>A (hg38)
PubMed: PMID:18347291
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075607G>A , CM000679.2:g.8075607G>A GRCh38
NC_000017.10:g.7978925G>A , CM000679.1:g.7978925G>A GRCh37
NC_000017.9:g.7919650G>A NCBI36
NG_007099.1:g.17097C>T
NG_007099.2:g.17110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1642C>T MANE Select ENSP00000497784.1:p.Arg548Trp
ENST00000649809.1:c.706C>T ENSP00000496845.1:p.Arg236Trp
ENST00000319144.4:c.1642C>T ENSP00000315167.4:p.Arg548Trp
ENST00000577351.5:n.479+568C>T
NM_001139.2:c.1642C>T NP_001130.1:p.Arg548Trp
NM_001139.3:c.1642C>T MANE Select NP_001130.1:p.Arg548Trp
Search 100 bp 5'
Search 100 bp 3'