Canonical Allele Identifier: CA8333767
Gene: ALOX12 HGNC NCBI
ALOX12-AS1 HGNC NCBI
COSMIC:
COSM4000285 (not active)
MyVariant.info:
GRCh38 chr17:g.7010333G>A
GRCh37 chr17:g.6913652G>A
gnomAD v2:
17:6913652 G / A
gnomAD v3:
17:7010333 G / A
gnomAD v4:
chr17-7010333-G-A
Joint Max Group AF 0.21237639 (SAS)
Genomes Max Group AF 0.21120369 (SAS)
Exomes Max Group AF 0.21189854 (SAS)
ClinVar RCV:
RCV001687575
ClinVar Variation:
1276383
dbSNP:
312462
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7010333G>A , CM000679.2:g.7010333G>A GRCh38
NC_000017.10:g.6913652G>A , CM000679.1:g.6913652G>A GRCh37
NC_000017.9:g.6854376G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000251535.11:c.1902G>A (ALOX12) MANE Select ENSP00000251535.6:p.Leu634=
ENST00000251535.10:c.1902G>A (ALOX12) ENSP00000251535.6:p.Leu634=
ENST00000406228.1:n.620G>A (ALOX12)
NM_000697.2:c.1902G>A (ALOX12) NP_000688.2:p.Leu634=
NR_040089.1:n.140-444C>T (ALOX12-AS1)
XM_011523780.1:c.2052G>A (ALOX12) XP_011522082.1:p.Leu684=
XM_011523780.2:c.2052G>A (ALOX12) XP_011522082.1:p.Leu684=
NM_000697.3:c.1902G>A (ALOX12) MANE Select NP_000688.2:p.Leu634=
Search 100 bp 5'
Search 100 bp 3'