Canonical Allele Identifier: CA304979724
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs890881354
gnomAD v2: 19-8469307-C-T
gnomAD v3: 19-8404423-C-T
gnomAD v4: 19-8404423-C-T
MyVariant Identifiers: chr19:g.8469307C>T (hg19) chr19:g.8404423C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*865C>T (RAB11B) MANE Select ENSP00000333547.5:n.*865C>T
ENST00000328024.10:c.*865C>T (RAB11B) ENSP00000333547.5:n.*865C>T
ENST00000351593.9:c.-88+40583G>A (ELAVL1) ENSP00000264073.6:n.-88+40583G>A
NM_004218.3:c.*865C>T (RAB11B) NP_004209.2:n.*865C>T
NM_004218.4:c.*865C>T (RAB11B) MANE Select NP_004209.2:n.*865C>T
Search 100 bp 5'
Search 100 bp 3'