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: CA304994879

Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1044899681

gnomAD v2: 19-8441858-T-G

gnomAD v3: 19-8376974-T-G

gnomAD v4: 19-8376974-T-G

MyVariant Identifiers: chr19:g.8441858T>G (hg19) chr19:g.8376974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8376974T>G , CM000681.2:g.8376974T>G	GRCh38
NC_000019.9:g.8441858T>G , CM000681.1:g.8441858T>G	GRCh37
NC_000019.8:g.8347858T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000351593.9:c.-88+68032A>C (ELAVL1)	ENSP00000264073.6:n.-88+68032A>C
NR_038237.1:n.777A>C (RAB11B-AS1)

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