Canonical Allele Identifier: CA2588087878
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

gnomAD v4: 19-8404433-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404433A>G , CM000681.2:g.8404433A>G GRCh38
NC_000019.9:g.8469317A>G , CM000681.1:g.8469317A>G GRCh37
NC_000019.8:g.8375317A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*875A>G (RAB11B) MANE Select ENSP00000333547.5:n.*875A>G
ENST00000328024.10:c.*875A>G (RAB11B) ENSP00000333547.5:n.*875A>G
ENST00000351593.9:c.-88+40573T>C (ELAVL1) ENSP00000264073.6:n.-88+40573T>C
NM_004218.3:c.*875A>G (RAB11B) NP_004209.2:n.*875A>G
NM_004218.4:c.*875A>G (RAB11B) MANE Select NP_004209.2:n.*875A>G