Canonical Allele Identifier: CA304955228
Gene: ELAVL1 HGNC NCBI
RPS28 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8321444C>T
GRCh37 chr19:g.8386328C>T
gnomAD v2:
19:8386328 C / T
gnomAD v3:
19:8321444 C / T
gnomAD v4:
chr19-8321444-C-T
Joint Max Group AF 0.00089404 (AFR)
Genomes Max Group AF 0.00070503 (AFR)
Exomes Max Group AF 0.00097082 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321444C>T , CM000681.2:g.8321444C>T GRCh38
NC_000019.9:g.8386328C>T , CM000681.1:g.8386328C>T GRCh37
NC_000019.8:g.8292328C>T NCBI36
NG_028213.1:g.4953G>A
NG_028213.2:g.4953G>A
NG_050637.1:g.4945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-87-59440G>A (ELAVL1) ENSP00000264073.6:n.-87-59440G>A
ENST00000449223.3:n.287C>T (RPS28)
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