Canonical Allele Identifier: CA8333307
Gene: ALOX12 HGNC NCBI
ALOX12-AS1 HGNC NCBI
COSMIC:
COSM3766155 (not active)
MyVariant.info:
GRCh38 chr17:g.6999441A>G
GRCh37 chr17:g.6902760A>G
Revel Score:
ENST00000251535 (MANE Select) 0.192
gnomAD v2:
17:6902760 A / G
gnomAD v3:
17:6999441 A / G
gnomAD v4:
chr17-6999441-A-G
Joint Max Group AF 0.68251145 (AMR)
Genomes Max Group AF 0.65804777 (AMR)
Exomes Max Group AF 0.68816052 (AMR)
ClinVar RCV:
RCV001615463
ClinVar Variation:
1224614
dbSNP:
1126667
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6999441A>G , CM000679.2:g.6999441A>G GRCh38
NC_000017.10:g.6902760A>G , CM000679.1:g.6902760A>G GRCh37
NC_000017.9:g.6843484A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000251535.11:c.782A>G (ALOX12) MANE Select ENSP00000251535.6:p.Gln261Arg
ENST00000251535.10:c.782A>G (ALOX12) ENSP00000251535.6:p.Gln261Arg
ENST00000480801.1:c.284A>G (ALOX12) ENSP00000467033.1:p.Gln95Arg
NM_000697.2:c.782A>G (ALOX12) NP_000688.2:p.Gln261Arg
NR_040089.1:n.233+10355T>C (ALOX12-AS1)
XM_011523780.1:c.932A>G (ALOX12) XP_011522082.1:p.Gln311Arg
XM_011523780.2:c.932A>G (ALOX12) XP_011522082.1:p.Gln311Arg
NM_000697.3:c.782A>G (ALOX12) MANE Select NP_000688.2:p.Gln261Arg
Search 100 bp 5'
Search 100 bp 3'