Canonical Allele Identifier: CA993264530
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1971465432
gnomAD v3: 19-8404485-A-G
gnomAD v4: 19-8404485-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404485A>G , CM000681.2:g.8404485A>G GRCh38
NC_000019.9:g.8469369A>G , CM000681.1:g.8469369A>G GRCh37
NC_000019.8:g.8375369A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40521T>C ENSP00000264073.6:n.-88+40521T>C