Canonical Allele Identifier: CA8367319
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1949169
ClinVar RCV Id: RCV002676051
dbSNP Id: rs760407503
ExAC: 17:7979650 C / T
gnomAD v2: 17-7979650-C-T
gnomAD v3: 17-8076332-C-T
gnomAD v4: 17-8076332-C-T
MyVariant Identifiers: chr17:g.7979650C>T (hg19) chr17:g.8076332C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076332C>T , CM000679.2:g.8076332C>T GRCh38
NC_000017.10:g.7979650C>T , CM000679.1:g.7979650C>T GRCh37
NC_000017.9:g.7920375C>T NCBI36
NG_007099.1:g.16372G>A
NG_007099.2:g.16385G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647874.1:c.1375G>A MANE Select ENSP00000497784.1:p.Gly459Ser
ENST00000649809.1:c.439G>A ENSP00000496845.1:p.Gly147Ser
ENST00000319144.4:c.1375G>A ENSP00000315167.4:p.Gly459Ser
ENST00000577351.5:n.322G>A
ENST00000583276.5:n.759G>A
ENST00000584116.1:n.631G>A
NM_001139.2:c.1375G>A NP_001130.1:p.Gly459Ser
NM_001139.3:c.1375G>A MANE Select NP_001130.1:p.Gly459Ser
Search 100 bp 5'
Search 100 bp 3'