Canonical Allele Identifier: CA2588076694
Gene: ELAVL1 HGNC NCBI
RPS28 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321437C>A , CM000681.2:g.8321437C>A GRCh38
NC_000019.9:g.8386321C>A , CM000681.1:g.8386321C>A GRCh37
NC_000019.8:g.8292321C>A NCBI36
NG_028213.1:g.4960G>T
NG_028213.2:g.4960G>T
NG_050637.1:g.4938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-87-59433G>T (ELAVL1) ENSP00000264073.6:n.-87-59433G>T
ENST00000449223.3:n.280C>A (RPS28)