Canonical Allele Identifier: CA304979848

Gene: ELAVL1

Linked Data

• dbSNP Id: rs553295243
• gnomAD v3: 19-8404541-C-A
• gnomAD v4: 19-8404541-C-A
• MyVariant Identifiers: chr19:g.8469425C>A (hg19) ; chr19:g.8404541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404541C>A , CM000681.2:g.8404541C>A	GRCh38
NC_000019.9:g.8469425C>A , CM000681.1:g.8469425C>A	GRCh37
NC_000019.8:g.8375425C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40465G>T	ENSP00000264073.6:n.-88+40465G>T