Canonical Allele Identifier: CA8306710
Gene: ALOX15 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4632019G>A
GRCh37 chr17:g.4535314G>A
Revel Score:
ENST00000293761 (MANE Select) 0.461
ENST00000545513 0.461
gnomAD v2:
17:4535314 G / A
gnomAD v3:
17:4632019 G / A
gnomAD v4:
chr17-4632019-G-A
Joint Max Group AF 0.09828042 (AMR)
Genomes Max Group AF 0.0609866 (AMR)
Exomes Max Group AF 0.11015884 (AMR)
ClinVar RCV:
RCV000762790
ClinVar Variation:
624559
dbSNP:
34210653
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4632019G>A , CM000679.2:g.4632019G>A GRCh38
NC_000017.10:g.4535314G>A , CM000679.1:g.4535314G>A GRCh37
NC_000017.9:g.4482063G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293761.8:c.1679C>T MANE Select ENSP00000293761.3:p.Thr560Met
ENST00000570836.6:c.1679C>T ENSP00000458832.1:p.Thr560Met
ENST00000293761.7:c.1679C>T ENSP00000293761.3:p.Thr560Met
ENST00000570836.5:c.1679C>T ENSP00000458832.1:p.Thr560Met
ENST00000574640.1:c.1562C>T ENSP00000460483.1:p.Thr521Met
NM_001140.3:c.1679C>T NP_001131.3:p.Thr560Met
NM_001140.4:c.1679C>T NP_001131.3:p.Thr560Met
NM_001140.5:c.1679C>T MANE Select NP_001131.3:p.Thr560Met
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