Canonical Allele Identifier: CA10638132
Gene: RPS26 HGNC NCBI

Linked Data

ClinVar Variation Id: 309852
ClinVar RCV Id: RCV000393080
dbSNP Id: rs886049687
gnomAD v3: 12-56042087-C-T
gnomAD v4: 12-56042087-C-T
MyVariant Identifiers: chr12:g.56435871C>T (hg19) chr12:g.56042087C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56042087C>T , CM000674.2:g.56042087C>T GRCh38
NC_000012.11:g.56435871C>T , CM000674.1:g.56435871C>T GRCh37
NC_000012.10:g.54722138C>T NCBI36
NG_023201.1:g.5186C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356464.10:c.-80C>T ENSP00000348849.5:n.-80C>T
ENST00000646449.2:c.-80C>T MANE Select ENSP00000496643.1:n.-80C>T
ENST00000356464.9:c.-80C>T ENSP00000348849.5:n.-80C>T
ENST00000552361.1:c.-35+23C>T ENSP00000450339.1:n.-35+23C>T
NM_001029.3:c.-80C>T NP_001020.2:n.-80C>T
NM_001029.5:c.-80C>T MANE Select NP_001020.2:n.-80C>T
Search 100 bp 5'
Search 100 bp 3'