Canonical Allele Identifier: CA993230390
Gene: ELAVL1 HGNC NCBI
RPS28 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321447G>T , CM000681.2:g.8321447G>T GRCh38
NC_000019.9:g.8386331G>T , CM000681.1:g.8386331G>T GRCh37
NC_000019.8:g.8292331G>T NCBI36
NG_028213.1:g.4950C>A
NG_028213.2:g.4950C>A
NG_050637.1:g.4948G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-87-59443C>A (ELAVL1) ENSP00000264073.6:n.-87-59443C>A
ENST00000449223.3:n.290G>T (RPS28)