Canonical Allele Identifier: CA15894916
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1225157
ClinVar RCV Id: RCV001608615
dbSNP Id: rs57869918
gnomAD v2: 17-7978819-T-A
gnomAD v3: 17-8075501-T-A
gnomAD v4: 17-8075501-T-A
MyVariant Identifiers: chr17:g.7978819T>A (hg19) chr17:g.8075501T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075501T>A , CM000679.2:g.8075501T>A GRCh38
NC_000017.10:g.7978819T>A , CM000679.1:g.7978819T>A GRCh37
NC_000017.9:g.7919544T>A NCBI36
NG_007099.1:g.17203A>T
NG_007099.2:g.17216A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1654+94A>T MANE Select ENSP00000497784.1:n.1654+94A>T
ENST00000649809.1:c.718+94A>T ENSP00000496845.1:n.718+94A>T
ENST00000319144.4:c.1654+94A>T ENSP00000315167.4:n.1654+94A>T
ENST00000577351.5:n.479+674A>T
NM_001139.2:c.1654+94A>T NP_001130.1:n.1654+94A>T
NM_001139.3:c.1654+94A>T MANE Select NP_001130.1:n.1654+94A>T
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