Canonical Allele Identifier: CA398000120
Gene: ALOX12B HGNC NCBI

Linked Data

gnomAD v4: 17-8086205-C-A
MyVariant Identifiers: chr17:g.7989523C>A (hg19) chr17:g.8086205C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086205C>A , CM000679.2:g.8086205C>A GRCh38
NC_000017.10:g.7989523C>A , CM000679.1:g.7989523C>A GRCh37
NC_000017.9:g.7930248C>A NCBI36
NG_007099.1:g.6499G>T
NG_007099.2:g.6512G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.163G>T MANE Select ENSP00000497784.1:p.Val55Leu
ENST00000319144.4:c.163G>T ENSP00000315167.4:p.Val55Leu
NM_001139.2:c.163G>T NP_001130.1:p.Val55Leu
NM_001139.3:c.163G>T MANE Select NP_001130.1:p.Val55Leu
Search 100 bp 5'
Search 100 bp 3'