Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA697249968

Gene: ALOX5AP HGNC NCBI

Linked Data

dbSNP Id: rs17222919

gnomAD v3: 13-30734192-T-A

gnomAD v4: 13-30734192-T-A

MyVariant Identifiers: chr13:g.31308329T>A (hg19) chr13:g.30734192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30734192T>A , CM000675.2:g.30734192T>A	GRCh38
NC_000013.10:g.31308329T>A , CM000675.1:g.31308329T>A	GRCh37
NC_000013.9:g.30206329T>A	NCBI36
NG_011963.2:g.25715T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617770.4:c.117-1359T>A	ENSP00000479870.1:n.117-1359T>A
NM_001204406.1:c.117-1359T>A	NP_001191335.1:n.117-1359T>A
NM_001204406.2:c.117-1359T>A	NP_001191335.1:n.117-1359T>A

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