Canonical Allele Identifier: CA6621653
Gene: RPS26 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157119
ClinVar RCV Id: RCV001500032
dbSNP Id: rs115750993
ExAC: 12:56435960 C / G
gnomAD v2: 12-56435960-C-G
gnomAD v3: 12-56042176-C-G
gnomAD v4: 12-56042176-C-G
COSMIC: COSM5783057
MyVariant Identifiers: chr12:g.56435960C>G (hg19) chr12:g.56042176C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56042176C>G , CM000674.2:g.56042176C>G GRCh38
NC_000012.11:g.56435960C>G , CM000674.1:g.56435960C>G GRCh37
NC_000012.10:g.54722227C>G NCBI36
NG_023201.1:g.5275C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356464.10:c.3+7C>G ENSP00000348849.5:n.3+7C>G
ENST00000646449.2:c.3+7C>G MANE Select ENSP00000496643.1:n.3+7C>G
ENST00000356464.9:c.3+7C>G ENSP00000348849.5:n.3+7C>G
ENST00000548590.1:n.30+7C>G
ENST00000552361.1:c.3+7C>G ENSP00000450339.1:n.3+7C>G
NM_001029.3:c.3+7C>G NP_001020.2:n.3+7C>G
NM_001029.5:c.3+7C>G MANE Select NP_001020.2:n.3+7C>G
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