Canonical Allele Identifier: CA8367315
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 995747
ClinVar RCV Id: RCV001289956
dbSNP Id: rs774958790
ExAC: 17:7979640 C / T
gnomAD v2: 17-7979640-C-T
gnomAD v4: 17-8076322-C-T
MyVariant Identifiers: chr17:g.7979640C>T (hg19) chr17:g.8076322C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076322C>T , CM000679.2:g.8076322C>T GRCh38
NC_000017.10:g.7979640C>T , CM000679.1:g.7979640C>T GRCh37
NC_000017.9:g.7920365C>T NCBI36
NG_007099.1:g.16382G>A
NG_007099.2:g.16395G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1385G>A MANE Select ENSP00000497784.1:p.Gly462Asp
ENST00000649809.1:c.449G>A ENSP00000496845.1:p.Gly150Asp
ENST00000319144.4:c.1385G>A ENSP00000315167.4:p.Gly462Asp
ENST00000577351.5:n.332G>A
ENST00000583276.5:n.769G>A
ENST00000584116.1:n.641G>A
NM_001139.2:c.1385G>A NP_001130.1:p.Gly462Asp
NM_001139.3:c.1385G>A MANE Select NP_001130.1:p.Gly462Asp
Search 100 bp 5'
Search 100 bp 3'