Canonical Allele Identifier: CA8367739
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 451501
ClinVar RCV Id: RCV000522841
dbSNP Id: rs764105296
ExAC: 17:7989520 G / A
gnomAD v2: 17-7989520-G-A
gnomAD v4: 17-8086202-G-A
MyVariant Identifiers: chr17:g.7989520G>A (hg19) chr17:g.8086202G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086202G>A , CM000679.2:g.8086202G>A GRCh38
NC_000017.10:g.7989520G>A , CM000679.1:g.7989520G>A GRCh37
NC_000017.9:g.7930245G>A NCBI36
NG_007099.1:g.6502C>T
NG_007099.2:g.6515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.166C>T MANE Select ENSP00000497784.1:p.Gln56Ter
ENST00000319144.4:c.166C>T ENSP00000315167.4:p.Gln56Ter
NM_001139.2:c.166C>T NP_001130.1:p.Gln56Ter
NM_001139.3:c.166C>T MANE Select NP_001130.1:p.Gln56Ter
Search 100 bp 5'
Search 100 bp 3'