Canonical Allele Identifier: CA993264557
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1971465999
gnomAD v3: 19-8404531-C-T
gnomAD v4: 19-8404531-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404531C>T , CM000681.2:g.8404531C>T GRCh38
NC_000019.9:g.8469415C>T , CM000681.1:g.8469415C>T GRCh37
NC_000019.8:g.8375415C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40475G>A ENSP00000264073.6:n.-88+40475G>A