Canonical Allele Identifier: CA5481155

Gene: ALOX5

Linked Data

• dbSNP Id: rs2228065
• ExAC: 10:45920506 G / C
• gnomAD v2: 10-45920506-G-C
• gnomAD v4: 10-45425058-G-C
• MyVariant Identifiers: chr10:g.45920506G>C (hg19) ; chr10:g.45425058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.45425058G>C , CM000672.2:g.45425058G>C	GRCh38
NC_000010.10:g.45920506G>C , CM000672.1:g.45920506G>C	GRCh37
NC_000010.9:g.45240512G>C	NCBI36
NG_011437.1:g.55878G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374391.7:c.760G>C MANE Select	ENSP00000363512.2:p.Glu254Gln
ENST00000374391.6:c.760G>C	ENSP00000363512.2:p.Glu254Gln
ENST00000483623.2:n.163G>C
ENST00000542434.5:c.760G>C	ENSP00000437634.1:p.Glu254Gln
ENST00000612635.4:c.680G>C	ENSP00000483803.1:n.680G>C
NM_000698.3:c.760G>C	NP_000689.1:p.Glu254Gln
NM_001256153.1:c.760G>C	NP_001243082.1:p.Glu254Gln
NM_001256154.1:c.760G>C	NP_001243083.1:p.Glu254Gln
XM_011539564.1:c.760G>C	XP_011537866.1:p.Glu254Gln
NM_000698.4:c.760G>C	NP_000689.1:p.Glu254Gln
NM_001256153.2:c.760G>C	NP_001243082.1:p.Glu254Gln
NM_001256154.2:c.760G>C	NP_001243083.1:p.Glu254Gln
NM_001320861.1:c.760G>C	NP_001307790.1:p.Glu254Gln
NM_001320862.1:c.325G>C	NP_001307791.1:p.Glu109Gln
XM_017016012.1:c.325G>C	XP_016871501.1:p.Glu109Gln
XR_001747075.1:n.827G>C
NM_000698.5:c.760G>C MANE Select	NP_000689.1:p.Glu254Gln
NM_001256153.3:c.760G>C	NP_001243082.1:p.Glu254Gln
NM_001320861.2:c.760G>C	NP_001307790.1:p.Glu254Gln
NM_001320862.2:c.325G>C	NP_001307791.1:p.Glu109Gln
NM_001256154.3:c.760G>C	NP_001243083.1:p.Glu254Gln