Canonical Allele Identifier: CA8367165
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 374101
ClinVar RCV Id: RCV000414766 RCV001289513
dbSNP Id: rs780420901
ExAC: 17:7976533 G / T
gnomAD v2: 17-7976533-G-T
gnomAD v4: 17-8073215-G-T
MyVariant Identifiers: chr17:g.7976533G>T (hg19) chr17:g.8073215G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8073215G>T , CM000679.2:g.8073215G>T GRCh38
NC_000017.10:g.7976533G>T , CM000679.1:g.7976533G>T GRCh37
NC_000017.9:g.7917258G>T NCBI36
NG_007099.1:g.19489C>A
NG_007099.2:g.19502C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1859C>A MANE Select ENSP00000497784.1:p.Pro620Gln
ENST00000649809.1:c.923C>A ENSP00000496845.1:p.Pro308Gln
ENST00000650441.1:n.282C>A
ENST00000319144.4:c.1859C>A ENSP00000315167.4:p.Pro620Gln
ENST00000577351.5:n.583C>A
NM_001139.2:c.1859C>A NP_001130.1:p.Pro620Gln
NM_001139.3:c.1859C>A MANE Select NP_001130.1:p.Pro620Gln
Search 100 bp 5'
Search 100 bp 3'