Canonical Allele Identifier: CA397988377
Gene: ALOX12B HGNC NCBI

Linked Data

gnomAD v4: 17-8075609-C-A
MyVariant Identifiers: chr17:g.7978927C>A (hg19) chr17:g.8075609C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075609C>A , CM000679.2:g.8075609C>A GRCh38
NC_000017.10:g.7978927C>A , CM000679.1:g.7978927C>A GRCh37
NC_000017.9:g.7919652C>A NCBI36
NG_007099.1:g.17095G>T
NG_007099.2:g.17108G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1640G>T MANE Select ENSP00000497784.1:p.Gly547Val
ENST00000649809.1:c.704G>T ENSP00000496845.1:p.Gly235Val
ENST00000319144.4:c.1640G>T ENSP00000315167.4:p.Gly547Val
ENST00000577351.5:n.479+566G>T
NM_001139.2:c.1640G>T NP_001130.1:p.Gly547Val
NM_001139.3:c.1640G>T MANE Select NP_001130.1:p.Gly547Val
Search 100 bp 5'
Search 100 bp 3'