Canonical Allele Identifier: CA304994982
Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs952579471
gnomAD v2: 19-8442140-C-T
gnomAD v3: 19-8377256-C-T
gnomAD v4: 19-8377256-C-T
MyVariant Identifiers: chr19:g.8442140C>T (hg19) chr19:g.8377256C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8377256C>T , CM000681.2:g.8377256C>T GRCh38
NC_000019.9:g.8442140C>T , CM000681.1:g.8442140C>T GRCh37
NC_000019.8:g.8348140C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+67750G>A (ELAVL1) ENSP00000264073.6:n.-88+67750G>A
NR_038237.1:n.684-189G>A (RAB11B-AS1)
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