Canonical Allele Identifier: CA163349
Gene: RPL21 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27254247G>A
GRCh37 chr13:g.27828384G>A
Revel Score:
ENST00000311549 (MANE Select) 0.419
ENST00000272274 0.419
ENST00000319826 0.419
ENST00000326092 0.419
gnomAD v4:
chr13-27254247-G-A
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
143259
ClinVar RCV:
RCV000128579
ClinVar Variation:
139638
dbSNP:
587777527
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27254247G>A , CM000675.2:g.27254247G>A GRCh38
NC_000013.10:g.27828384G>A , CM000675.1:g.27828384G>A GRCh37
NC_000013.9:g.26726384G>A NCBI36
NG_046927.1:g.7693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311549.11:c.95G>A MANE Select ENSP00000346027.4:p.Arg32Gln
ENST00000272274.8:c.95G>A ENSP00000351021.2:p.Arg32Gln
ENST00000311549.10:c.95G>A ENSP00000346027.4:p.Arg32Gln
ENST00000319826.8:c.95G>A ENSP00000370574.1:p.Arg32Gln
ENST00000326092.8:c.95G>A ENSP00000370569.1:p.Arg32Gln
ENST00000461690.5:c.95G>A ENSP00000434298.1:p.Arg32Gln
ENST00000466550.1:n.107G>A
ENST00000473558.5:n.331G>A
ENST00000483765.5:c.67+404G>A ENSP00000473246.1:n.67+404G>A
ENST00000493317.1:c.95G>A ENSP00000471695.1:p.Arg32Gln
NM_000982.3:c.95G>A NP_000973.2:p.Arg32Gln
NM_000982.4:c.95G>A MANE Select NP_000973.2:p.Arg32Gln
Search 100 bp 5'
Search 100 bp 3'