Canonical Allele Identifier: CA631362355

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1206054640
• gnomAD v2: 19-8469888-A-G
• gnomAD v3: 19-8405004-A-G
• gnomAD v4: 19-8405004-A-G
• MyVariant Identifiers: chr19:g.8469888A>G (hg19) ; chr19:g.8405004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8405004A>G , CM000681.2:g.8405004A>G	GRCh38
NC_000019.9:g.8469888A>G , CM000681.1:g.8469888A>G	GRCh37
NC_000019.8:g.8375888A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40002T>C	ENSP00000264073.6:n.-88+40002T>C