Canonical Allele Identifier: CA30768715

Gene: RPS27

Linked Data

• dbSNP Id: rs1006826721
• gnomAD v4: 1-153991032-C-G
• MyVariant Identifiers: chr1:g.153963508C>G (hg19) ; chr1:g.153991032C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991032C>G , CM000663.2:g.153991032C>G	GRCh38
NC_000001.10:g.153963508C>G , CM000663.1:g.153963508C>G	GRCh37
NC_000001.9:g.152230132C>G	NCBI36
NG_053102.2:g.5278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.112C>G
ENST00000643794.1:c.125C>G	ENSP00000495765.1:p.Pro42Arg
ENST00000651669.1:c.7-83C>G MANE Select	ENSP00000499044.1:n.7-83C>G
ENST00000368567.4:c.7-83C>G	ENSP00000357555.4:n.7-83C>G
ENST00000392558.4:c.7-83C>G	ENSP00000376341.4:n.7-83C>G
ENST00000477151.1:n.159C>G
ENST00000493224.5:n.270C>G
NM_001030.4:c.7-83C>G	NP_001021.1:n.7-83C>G
NM_001030.6:c.7-83C>G MANE Select	NP_001021.1:n.7-83C>G
NM_001349946.1:c.-93C>G	NP_001336875.1:n.-93C>G
NM_001349947.1:c.-93C>G	NP_001336876.1:n.-93C>G
NM_001349946.2:c.-93C>G	NP_001336875.1:n.-93C>G
NM_001349947.2:c.-93C>G	NP_001336876.1:n.-93C>G