Canonical Allele Identifier: CA497762963
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1978297384
gnomAD v4: 17-8086152-C-T
MyVariant Identifiers: chr17:g.7989470C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086152C>T , CM000679.2:g.8086152C>T GRCh38
NC_000017.10:g.7989470C>T , CM000679.1:g.7989470C>T GRCh37
NC_000017.9:g.7930195C>T NCBI36
NG_007099.1:g.6552G>A
NG_007099.2:g.6565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.216G>A MANE Select ENSP00000497784.1:p.Glu72=
ENST00000319144.4:c.216G>A ENSP00000315167.4:p.Glu72=
NM_001139.2:c.216G>A NP_001130.1:p.Glu72=
NM_001139.3:c.216G>A MANE Select NP_001130.1:p.Glu72=
Search 100 bp 5'
Search 100 bp 3'