Canonical Allele Identifier: CA6621632

Gene: RPS26

Linked Data

• ClinVar Variation Id: 309857
• ClinVar RCV Id: RCV000363232 ; RCV000604981
• dbSNP Id: rs1131017
• ExAC: 12:56435929 C / G
• gnomAD v2: 12-56435929-C-G
• gnomAD v3: 12-56042145-C-G
• gnomAD v4: 12-56042145-C-G
• MyVariant Identifiers: chr12:g.56435929C>G (hg19) ; chr12:g.56042145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56042145C>G , CM000674.2:g.56042145C>G	GRCh38
NC_000012.11:g.56435929C>G , CM000674.1:g.56435929C>G	GRCh37
NC_000012.10:g.54722196C>G	NCBI36
NG_023201.1:g.5244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356464.10:c.-22C>G	ENSP00000348849.5:n.-22C>G
ENST00000646449.2:c.-22C>G MANE Select	ENSP00000496643.1:n.-22C>G
ENST00000356464.9:c.-22C>G	ENSP00000348849.5:n.-22C>G
ENST00000548590.1:n.6C>G
ENST00000552361.1:c.-22C>G	ENSP00000450339.1:n.-22C>G
NM_001029.3:c.-22C>G	NP_001020.2:n.-22C>G
NM_001029.5:c.-22C>G MANE Select	NP_001020.2:n.-22C>G