Canonical Allele Identifier: CA304979793

Gene: ELAVL1

Linked Data

• dbSNP Id: rs951452113
• gnomAD v3: 19-8404474-C-T
• gnomAD v4: 19-8404474-C-T
• MyVariant Identifiers: chr19:g.8469358C>T (hg19) ; chr19:g.8404474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404474C>T , CM000681.2:g.8404474C>T	GRCh38
NC_000019.9:g.8469358C>T , CM000681.1:g.8469358C>T	GRCh37
NC_000019.8:g.8375358C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40532G>A	ENSP00000264073.6:n.-88+40532G>A