Canonical Allele Identifier: CA526664968

Gene: RPS27

Linked Data

• dbSNP Id: rs1403213641
• gnomAD v2: 1-153963823-A-G
• gnomAD v4: 1-153991347-A-G
• MyVariant Identifiers: chr1:g.153963823A>G (hg19) ; chr1:g.153991347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991347A>G , CM000663.2:g.153991347A>G	GRCh38
NC_000001.10:g.153963823A>G , CM000663.1:g.153963823A>G	GRCh37
NC_000001.9:g.152230447A>G	NCBI36
NG_053102.2:g.5593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+124A>G
ENST00000643794.1:c.236+124A>G	ENSP00000495765.1:n.236+124A>G
ENST00000651669.1:c.115+124A>G MANE Select	ENSP00000499044.1:n.115+124A>G
ENST00000368567.4:c.115+124A>G	ENSP00000357555.4:n.115+124A>G
ENST00000392558.4:c.*38A>G	ENSP00000376341.4:n.*38A>G
ENST00000477151.1:n.270+124A>G
ENST00000493224.5:n.381+124A>G
NM_001030.4:c.115+124A>G	NP_001021.1:n.115+124A>G
NM_001030.6:c.115+124A>G MANE Select	NP_001021.1:n.115+124A>G
NM_001349946.1:c.19+124A>G	NP_001336875.1:n.19+124A>G
NM_001349947.1:c.19+124A>G	NP_001336876.1:n.19+124A>G
NM_001349946.2:c.19+124A>G	NP_001336875.1:n.19+124A>G
NM_001349947.2:c.19+124A>G	NP_001336876.1:n.19+124A>G