Canonical Allele Identifier: CA397999160
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 995750
ClinVar RCV Id: RCV001289959
dbSNP Id: rs1256507861
gnomAD v3: 17-8086069-G-A
gnomAD v4: 17-8086069-G-A
MyVariant Identifiers: chr17:g.7989387G>A (hg19) chr17:g.8086069G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086069G>A , CM000679.2:g.8086069G>A GRCh38
NC_000017.10:g.7989387G>A , CM000679.1:g.7989387G>A GRCh37
NC_000017.9:g.7930112G>A NCBI36
NG_007099.1:g.6635C>T
NG_007099.2:g.6648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.299C>T MANE Select ENSP00000497784.1:p.Pro100Leu
ENST00000319144.4:c.299C>T ENSP00000315167.4:p.Pro100Leu
NM_001139.2:c.299C>T NP_001130.1:p.Pro100Leu
NM_001139.3:c.299C>T MANE Select NP_001130.1:p.Pro100Leu
Search 100 bp 5'
Search 100 bp 3'