Canonical Allele Identifier: CA8333672
Gene: ALOX12 HGNC NCBI
ALOX12-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7009810C>T
GRCh37 chr17:g.6913129C>T
Revel Score:
ENST00000399541 0.142
ENST00000399540 0.142
ENST00000251535 (MANE Select) 0.561
ENST00000406228 0.561
gnomAD v2:
17:6913129 C / T
gnomAD v3:
17:7009810 C / T
gnomAD v4:
chr17-7009810-C-T
Joint Max Group AF 0.00008139 (AFR)
Genomes Max Group AF 0.00001913 (AFR)
Exomes Max Group AF 0.00011826 (AFR)
ClinVar RCV:
RCV004225529
ClinVar Variation:
2392090
dbSNP:
552917054
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7009810C>T , CM000679.2:g.7009810C>T GRCh38
NC_000017.10:g.6913129C>T , CM000679.1:g.6913129C>T GRCh37
NC_000017.9:g.6853853C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000251535.11:c.1604C>T (ALOX12) MANE Select ENSP00000251535.6:p.Thr535Met
ENST00000251535.10:c.1604C>T (ALOX12) ENSP00000251535.6:p.Thr535Met
ENST00000406228.1:n.322C>T (ALOX12)
NM_000697.2:c.1604C>T (ALOX12) NP_000688.2:p.Thr535Met
NR_040089.1:n.219G>A (ALOX12-AS1)
XM_011523780.1:c.1754C>T (ALOX12) XP_011522082.1:p.Thr585Met
XM_011523780.2:c.1754C>T (ALOX12) XP_011522082.1:p.Thr585Met
NM_000697.3:c.1604C>T (ALOX12) MANE Select NP_000688.2:p.Thr535Met
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