Canonical Allele Identifier: CA993264539
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs938761052
gnomAD v3: 19-8404501-C-G
gnomAD v4: 19-8404501-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404501C>G , CM000681.2:g.8404501C>G GRCh38
NC_000019.9:g.8469385C>G , CM000681.1:g.8469385C>G GRCh37
NC_000019.8:g.8375385C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40505G>C ENSP00000264073.6:n.-88+40505G>C
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