Canonical Allele Identifier: CA304979726
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs78309626
gnomAD v4: 19-8404434-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404434A>C , CM000681.2:g.8404434A>C GRCh38
NC_000019.9:g.8469318A>C , CM000681.1:g.8469318A>C GRCh37
NC_000019.8:g.8375318A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*876A>C (RAB11B) MANE Select ENSP00000333547.5:n.*876A>C
ENST00000328024.10:c.*876A>C (RAB11B) ENSP00000333547.5:n.*876A>C
ENST00000351593.9:c.-88+40572T>G (ELAVL1) ENSP00000264073.6:n.-88+40572T>G
NM_004218.3:c.*876A>C (RAB11B) NP_004209.2:n.*876A>C
NM_004218.4:c.*876A>C (RAB11B) MANE Select NP_004209.2:n.*876A>C