Canonical Allele Identifier: CA304979711
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs570758931
gnomAD v3: 19-8404407-A-G
gnomAD v4: 19-8404407-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404407A>G , CM000681.2:g.8404407A>G GRCh38
NC_000019.9:g.8469291A>G , CM000681.1:g.8469291A>G GRCh37
NC_000019.8:g.8375291A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*849A>G (RAB11B) MANE Select ENSP00000333547.5:n.*849A>G
ENST00000328024.10:c.*849A>G (RAB11B) ENSP00000333547.5:n.*849A>G
ENST00000351593.9:c.-88+40599T>C (ELAVL1) ENSP00000264073.6:n.-88+40599T>C
NM_004218.3:c.*849A>G (RAB11B) NP_004209.2:n.*849A>G
NM_004218.4:c.*849A>G (RAB11B) MANE Select NP_004209.2:n.*849A>G