Canonical Allele Identifier: CA8367316
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs199880378
ExAC: 17:7979647 C / T
gnomAD v2: 17-7979647-C-T
gnomAD v3: 17-8076329-C-T
gnomAD v4: 17-8076329-C-T
MyVariant Identifiers: chr17:g.7979647C>T (hg19) chr17:g.8076329C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076329C>T , CM000679.2:g.8076329C>T GRCh38
NC_000017.10:g.7979647C>T , CM000679.1:g.7979647C>T GRCh37
NC_000017.9:g.7920372C>T NCBI36
NG_007099.1:g.16375G>A
NG_007099.2:g.16388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1378G>A MANE Select ENSP00000497784.1:p.Val460Met
ENST00000649809.1:c.442G>A ENSP00000496845.1:p.Val148Met
ENST00000319144.4:c.1378G>A ENSP00000315167.4:p.Val460Met
ENST00000577351.5:n.325G>A
ENST00000583276.5:n.762G>A
ENST00000584116.1:n.634G>A
NM_001139.2:c.1378G>A NP_001130.1:p.Val460Met
NM_001139.3:c.1378G>A MANE Select NP_001130.1:p.Val460Met
Search 100 bp 5'
Search 100 bp 3'