Canonical Allele Identifier: CA1123821

Gene: RPS27

Linked Data

• dbSNP Id: rs767437920
• ExAC: 1:153963325 C / G
• gnomAD v2: 1-153963325-C-G
• gnomAD v4: 1-153990849-C-G
• MyVariant Identifiers: chr1:g.153963325C>G (hg19) ; chr1:g.153990849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990849C>G , CM000663.2:g.153990849C>G	GRCh38
NC_000001.10:g.153963325C>G , CM000663.1:g.153963325C>G	GRCh37
NC_000001.9:g.152229949C>G	NCBI36
NG_053102.2:g.5095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.6+47C>G	ENSP00000495765.1:n.6+47C>G
ENST00000651669.1:c.6+47C>G MANE Select	ENSP00000499044.1:n.6+47C>G
ENST00000368567.4:c.6+47C>G	ENSP00000357555.4:n.6+47C>G
ENST00000392558.4:c.6+47C>G	ENSP00000376341.4:n.6+47C>G
ENST00000477151.1:n.40+47C>G
ENST00000493224.5:n.87C>G
NM_001030.4:c.6+47C>G	NP_001021.1:n.6+47C>G
NM_001030.6:c.6+47C>G MANE Select	NP_001021.1:n.6+47C>G
NM_001349946.1:c.-212+47C>G	NP_001336875.1:n.-212+47C>G
NM_001349947.1:c.-276C>G	NP_001336876.1:n.-276C>G
NM_001349946.2:c.-212+47C>G	NP_001336875.1:n.-212+47C>G
NM_001349947.2:c.-276C>G	NP_001336876.1:n.-276C>G