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: CA1085965115

Gene: ELOVL2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1321535

gnomAD v3: 6-11075793-T-A

gnomAD v4: 6-11075793-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11075793T>A , CM000668.2:g.11075793T>A	GRCh38
NC_000006.11:g.11076026T>A , CM000668.1:g.11076026T>A	GRCh37
NC_000006.10:g.11184012T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_038962.1:n.368-1896T>A
NR_038963.1:n.160-1896T>A
NR_038964.1:n.362-1896T>A

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