Canonical Allele Identifier: CA8367260
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 325876
ClinVar RCV Id: RCV000286517 RCV000900138
dbSNP Id: rs150371678
ExAC: 17:7979002 G / A
gnomAD v2: 17-7979002-G-A
gnomAD v3: 17-8075684-G-A
gnomAD v4: 17-8075684-G-A
COSMIC: COSM985929
MyVariant Identifiers: chr17:g.7979002G>A (hg19) chr17:g.8075684G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075684G>A , CM000679.2:g.8075684G>A GRCh38
NC_000017.10:g.7979002G>A , CM000679.1:g.7979002G>A GRCh37
NC_000017.9:g.7919727G>A NCBI36
NG_007099.1:g.17020C>T
NG_007099.2:g.17033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1565C>T MANE Select ENSP00000497784.1:p.Pro522Leu
ENST00000649809.1:c.629C>T ENSP00000496845.1:p.Pro210Leu
ENST00000319144.4:c.1565C>T ENSP00000315167.4:p.Pro522Leu
ENST00000577351.5:n.479+491C>T
NM_001139.2:c.1565C>T NP_001130.1:p.Pro522Leu
NM_001139.3:c.1565C>T MANE Select NP_001130.1:p.Pro522Leu
Search 100 bp 5'
Search 100 bp 3'