Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA505270235

Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1971225084

gnomAD v3: 19-8376979-T-G

gnomAD v4: 19-8376979-T-G

MyVariant Identifiers: chr19:g.8441863T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8376979T>G , CM000681.2:g.8376979T>G	GRCh38
NC_000019.9:g.8441863T>G , CM000681.1:g.8441863T>G	GRCh37
NC_000019.8:g.8347863T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000351593.9:c.-88+68027A>C (ELAVL1)	ENSP00000264073.6:n.-88+68027A>C
NR_038237.1:n.772A>C (RAB11B-AS1)

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