Canonical Allele Identifier: CA6621618

Gene: RPS26

Linked Data

• ClinVar Variation Id: 309853
• ClinVar RCV Id: RCV000302442 ; RCV000615555
• dbSNP Id: rs188808121
• ExAC: 12:56435916 G / A
• gnomAD v2: 12-56435916-G-A
• gnomAD v3: 12-56042132-G-A
• gnomAD v4: 12-56042132-G-A
• MyVariant Identifiers: chr12:g.56435916G>A (hg19) ; chr12:g.56042132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56042132G>A , CM000674.2:g.56042132G>A	GRCh38
NC_000012.11:g.56435916G>A , CM000674.1:g.56435916G>A	GRCh37
NC_000012.10:g.54722183G>A	NCBI36
NG_023201.1:g.5231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356464.10:c.-35G>A	ENSP00000348849.5:n.-35G>A
ENST00000646449.2:c.-35G>A MANE Select	ENSP00000496643.1:n.-35G>A
ENST00000356464.9:c.-35G>A	ENSP00000348849.5:n.-35G>A
ENST00000552361.1:c.-34-1G>A	ENSP00000450339.1:n.-34-1G>A
NM_001029.3:c.-35G>A	NP_001020.2:n.-35G>A
NM_001029.5:c.-35G>A MANE Select	NP_001020.2:n.-35G>A