Canonical Allele Identifier: CA304955211
Gene: ELAVL1 HGNC NCBI
RPS28 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8321438G>C
GRCh37 chr19:g.8386322G>C
gnomAD v3:
19:8321438 G / C
gnomAD v4:
chr19-8321438-G-C
Joint Max Group AF 0.00008576 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00008456 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321438G>C , CM000681.2:g.8321438G>C GRCh38
NC_000019.9:g.8386322G>C , CM000681.1:g.8386322G>C GRCh37
NC_000019.8:g.8292322G>C NCBI36
NG_028213.1:g.4959C>G
NG_028213.2:g.4959C>G
NG_050637.1:g.4939G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-87-59434C>G (ELAVL1) ENSP00000264073.6:n.-87-59434C>G
ENST00000449223.3:n.281G>C (RPS28)
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