Canonical Allele Identifier: CA1123828

Gene: RPS27

Linked Data

• ClinVar Variation Id: 2870884
• ClinVar RCV Id: RCV003703565
• dbSNP Id: rs373574399
• ExAC: 1:153963576 T / C
• gnomAD v2: 1-153963576-T-C
• gnomAD v3: 1-153991100-T-C
• gnomAD v4: 1-153991100-T-C
• MyVariant Identifiers: chr1:g.153963576T>C (hg19) ; chr1:g.153991100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991100T>C , CM000663.2:g.153991100T>C	GRCh38
NC_000001.10:g.153963576T>C , CM000663.1:g.153963576T>C	GRCh37
NC_000001.9:g.152230200T>C	NCBI36
NG_053102.2:g.5346T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477151.2:n.180T>C
ENST00000643794.1:c.128-15T>C	ENSP00000495765.1:n.128-15T>C
ENST00000651669.1:c.7-15T>C MANE Select	ENSP00000499044.1:n.7-15T>C
ENST00000368567.4:c.7-15T>C	ENSP00000357555.4:n.7-15T>C
ENST00000392558.4:c.7-15T>C	ENSP00000376341.4:n.7-15T>C
ENST00000477151.1:n.162-15T>C
ENST00000493224.5:n.273-15T>C
NM_001030.4:c.7-15T>C	NP_001021.1:n.7-15T>C
NM_001030.6:c.7-15T>C MANE Select	NP_001021.1:n.7-15T>C
NM_001349946.1:c.-90-15T>C	NP_001336875.1:n.-90-15T>C
NM_001349947.1:c.-90-15T>C	NP_001336876.1:n.-90-15T>C
NM_001349946.2:c.-90-15T>C	NP_001336875.1:n.-90-15T>C
NM_001349947.2:c.-90-15T>C	NP_001336876.1:n.-90-15T>C