Canonical Allele Identifier: CA8367269
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 891849
ClinVar RCV Id: RCV001127391 RCV002070084
dbSNP Id: rs199760981
ExAC: 17:7979045 G / C
gnomAD v2: 17-7979045-G-C
gnomAD v3: 17-8075727-G-C
gnomAD v4: 17-8075727-G-C
MyVariant Identifiers: chr17:g.7979045G>C (hg19) chr17:g.8075727G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075727G>C , CM000679.2:g.8075727G>C GRCh38
NC_000017.10:g.7979045G>C , CM000679.1:g.7979045G>C GRCh37
NC_000017.9:g.7919770G>C NCBI36
NG_007099.1:g.16977C>G
NG_007099.2:g.16990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1533-11C>G MANE Select ENSP00000497784.1:n.1533-11C>G
ENST00000649809.1:c.597-11C>G ENSP00000496845.1:n.597-11C>G
ENST00000319144.4:c.1533-11C>G ENSP00000315167.4:n.1533-11C>G
ENST00000577351.5:n.479+448C>G
NM_001139.2:c.1533-11C>G NP_001130.1:n.1533-11C>G
NM_001139.3:c.1533-11C>G MANE Select NP_001130.1:n.1533-11C>G
Search 100 bp 5'
Search 100 bp 3'