Canonical Allele Identifier: CA342586985
Gene: RPS27 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153991127C>A , CM000663.2:g.153991127C>A GRCh38
NC_000001.10:g.153963603C>A , CM000663.1:g.153963603C>A GRCh37
NC_000001.9:g.152230227C>A NCBI36
NG_053102.2:g.5373C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477151.2:n.207C>A
ENST00000643794.1:c.140C>A ENSP00000495765.1:p.Ser47Tyr
ENST00000651669.1:c.19C>A MANE Select ENSP00000499044.1:p.Leu7Ile
ENST00000368567.4:c.19C>A ENSP00000357555.4:p.Leu7Ile
ENST00000392558.4:c.19C>A ENSP00000376341.4:p.Leu7Ile
ENST00000477151.1:n.174C>A
ENST00000493224.5:n.285C>A
NM_001030.4:c.19C>A NP_001021.1:p.Leu7Ile
NM_001030.6:c.19C>A MANE Select NP_001021.1:p.Leu7Ile
NM_001349946.1:c.-78C>A NP_001336875.1:n.-78C>A
NM_001349947.1:c.-78C>A NP_001336876.1:n.-78C>A
NM_001349946.2:c.-78C>A NP_001336875.1:n.-78C>A
NM_001349947.2:c.-78C>A NP_001336876.1:n.-78C>A