Canonical Allele Identifier: CA1123857

Gene: RPS27

Linked Data

• dbSNP Id: rs777913559
• ExAC: 1:153963746 G / A
• MyVariant Identifiers: chr1:g.153963746G>A (hg19) ; chr1:g.153991270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991270G>A , CM000663.2:g.153991270G>A	GRCh38
NC_000001.10:g.153963746G>A , CM000663.1:g.153963746G>A	GRCh37
NC_000001.9:g.152230370G>A	NCBI36
NG_053102.2:g.5516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+47G>A
ENST00000643794.1:c.236+47G>A	ENSP00000495765.1:n.236+47G>A
ENST00000651669.1:c.115+47G>A MANE Select	ENSP00000499044.1:n.115+47G>A
ENST00000368567.4:c.115+47G>A	ENSP00000357555.4:n.115+47G>A
ENST00000392558.4:c.162G>A	ENSP00000376341.4:p.Gln54=
ENST00000477151.1:n.270+47G>A
ENST00000493224.5:n.381+47G>A
NM_001030.4:c.115+47G>A	NP_001021.1:n.115+47G>A
NM_001030.6:c.115+47G>A MANE Select	NP_001021.1:n.115+47G>A
NM_001349946.1:c.19+47G>A	NP_001336875.1:n.19+47G>A
NM_001349947.1:c.19+47G>A	NP_001336876.1:n.19+47G>A
NM_001349946.2:c.19+47G>A	NP_001336875.1:n.19+47G>A
NM_001349947.2:c.19+47G>A	NP_001336876.1:n.19+47G>A