Canonical Allele Identifier: CA2588087869
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

gnomAD v4: 19-8404423-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404423C>A , CM000681.2:g.8404423C>A GRCh38
NC_000019.9:g.8469307C>A , CM000681.1:g.8469307C>A GRCh37
NC_000019.8:g.8375307C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*865C>A (RAB11B) MANE Select ENSP00000333547.5:n.*865C>A
ENST00000328024.10:c.*865C>A (RAB11B) ENSP00000333547.5:n.*865C>A
ENST00000351593.9:c.-88+40583G>T (ELAVL1) ENSP00000264073.6:n.-88+40583G>T
NM_004218.3:c.*865C>A (RAB11B) NP_004209.2:n.*865C>A
NM_004218.4:c.*865C>A (RAB11B) MANE Select NP_004209.2:n.*865C>A