Canonical Allele Identifier: CA397988343
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1461406920
gnomAD v2: 17-7978921-T-C
gnomAD v4: 17-8075603-T-C
MyVariant Identifiers: chr17:g.7978921T>C (hg19) chr17:g.8075603T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075603T>C , CM000679.2:g.8075603T>C GRCh38
NC_000017.10:g.7978921T>C , CM000679.1:g.7978921T>C GRCh37
NC_000017.9:g.7919646T>C NCBI36
NG_007099.1:g.17101A>G
NG_007099.2:g.17114A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1646A>G MANE Select ENSP00000497784.1:p.Glu549Gly
ENST00000649809.1:c.710A>G ENSP00000496845.1:p.Glu237Gly
ENST00000319144.4:c.1646A>G ENSP00000315167.4:p.Glu549Gly
ENST00000577351.5:n.479+572A>G
NM_001139.2:c.1646A>G NP_001130.1:p.Glu549Gly
NM_001139.3:c.1646A>G MANE Select NP_001130.1:p.Glu549Gly
Search 100 bp 5'
Search 100 bp 3'