Canonical Allele Identifier: CA631359787
Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs948750166
gnomAD v2: 19-8441983-A-C
gnomAD v3: 19-8377099-A-C
gnomAD v4: 19-8377099-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8377099A>C , CM000681.2:g.8377099A>C GRCh38
NC_000019.9:g.8441983A>C , CM000681.1:g.8441983A>C GRCh37
NC_000019.8:g.8347983A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+67907T>G (ELAVL1) ENSP00000264073.6:n.-88+67907T>G
NR_038237.1:n.684-32T>G (RAB11B-AS1)