Canonical Allele Identifier: CA247376124
Gene: ALOX5AP HGNC NCBI

Linked Data

dbSNP Id: rs759198250
gnomAD v2: 13-31312696-G-A
gnomAD v3: 13-30738559-G-A
gnomAD v4: 13-30738559-G-A
MyVariant Identifiers: chr13:g.31312696G>A (hg19) chr13:g.30738559G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.30738559G>A , CM000675.2:g.30738559G>A GRCh38
NC_000013.10:g.31312696G>A , CM000675.1:g.31312696G>A GRCh37
NC_000013.9:g.30210696G>A NCBI36
NG_011963.2:g.30082G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380490.5:c.70+2884G>A MANE Select ENSP00000369858.3:n.70+2884G>A
ENST00000380490.4:c.70+2884G>A ENSP00000369858.3:n.70+2884G>A
ENST00000617770.4:c.241+2884G>A ENSP00000479870.1:n.241+2884G>A
NM_001204406.1:c.241+2884G>A NP_001191335.1:n.241+2884G>A
NM_001629.3:c.70+2884G>A NP_001620.2:n.70+2884G>A
XM_011535024.1:c.70+2884G>A XP_011533326.1:n.70+2884G>A
NM_001204406.2:c.241+2884G>A NP_001191335.1:n.241+2884G>A
NM_001629.4:c.70+2884G>A MANE Select NP_001620.2:n.70+2884G>A
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