Canonical Allele Identifier: CA304955238
Gene: ELAVL1 HGNC NCBI
RPS28 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8321449G>A
GRCh37 chr19:g.8386333G>A
gnomAD v2:
19:8386333 G / A
gnomAD v3:
19:8321449 G / A
gnomAD v4:
chr19-8321449-G-A
Joint Max Group AF 0.00477844 (NFE)
Genomes Max Group AF 0.0035102 (NFE)
Exomes Max Group AF 0.00483717 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321449G>A , CM000681.2:g.8321449G>A GRCh38
NC_000019.9:g.8386333G>A , CM000681.1:g.8386333G>A GRCh37
NC_000019.8:g.8292333G>A NCBI36
NG_028213.1:g.4948C>T
NG_028213.2:g.4948C>T
NG_050637.1:g.4950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-87-59445C>T (ELAVL1) ENSP00000264073.6:n.-87-59445C>T
ENST00000449223.3:n.292G>A (RPS28)
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