Canonical Allele Identifier: CA304994984
Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs959047250
gnomAD v2: 19-8442141-G-A
gnomAD v3: 19-8377257-G-A
gnomAD v4: 19-8377257-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8377257G>A , CM000681.2:g.8377257G>A GRCh38
NC_000019.9:g.8442141G>A , CM000681.1:g.8442141G>A GRCh37
NC_000019.8:g.8348141G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+67749C>T (ELAVL1) ENSP00000264073.6:n.-88+67749C>T
NR_038237.1:n.684-190C>T (RAB11B-AS1)