Canonical Allele Identifier: CA304979725
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs549896988
gnomAD v2: 19-8469312-A-G
gnomAD v3: 19-8404428-A-G
gnomAD v4: 19-8404428-A-G
MyVariant Identifiers: chr19:g.8469312A>G (hg19) chr19:g.8404428A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404428A>G , CM000681.2:g.8404428A>G GRCh38
NC_000019.9:g.8469312A>G , CM000681.1:g.8469312A>G GRCh37
NC_000019.8:g.8375312A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*870A>G (RAB11B) MANE Select ENSP00000333547.5:n.*870A>G
ENST00000328024.10:c.*870A>G (RAB11B) ENSP00000333547.5:n.*870A>G
ENST00000351593.9:c.-88+40578T>C (ELAVL1) ENSP00000264073.6:n.-88+40578T>C
NM_004218.3:c.*870A>G (RAB11B) NP_004209.2:n.*870A>G
NM_004218.4:c.*870A>G (RAB11B) MANE Select NP_004209.2:n.*870A>G
Search 100 bp 5'
Search 100 bp 3'