Canonical Allele Identifier: CA884317093
Gene: RAB11B HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1461125712
gnomAD v3: 19-8404425-T-C
gnomAD v4: 19-8404425-T-C
MyVariant Identifiers: chr19:g.8469309T>C (hg19) chr19:g.8404425T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404425T>C , CM000681.2:g.8404425T>C GRCh38
NC_000019.9:g.8469309T>C , CM000681.1:g.8469309T>C GRCh37
NC_000019.8:g.8375309T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328024.11:c.*867T>C (RAB11B) MANE Select ENSP00000333547.5:n.*867T>C
ENST00000328024.10:c.*867T>C (RAB11B) ENSP00000333547.5:n.*867T>C
ENST00000351593.9:c.-88+40581A>G (ELAVL1) ENSP00000264073.6:n.-88+40581A>G
NM_004218.3:c.*867T>C (RAB11B) NP_004209.2:n.*867T>C
NM_004218.4:c.*867T>C (RAB11B) MANE Select NP_004209.2:n.*867T>C
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