Canonical Allele Identifier: CA342587053

Gene: RPS27

Linked Data

• dbSNP Id: rs1269649760
• gnomAD v2: 1-153963621-G-C
• gnomAD v4: 1-153991145-G-C
• MyVariant Identifiers: chr1:g.153963621G>C (hg19) ; chr1:g.153991145G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991145G>C , CM000663.2:g.153991145G>C	GRCh38
NC_000001.10:g.153963621G>C , CM000663.1:g.153963621G>C	GRCh37
NC_000001.9:g.152230245G>C	NCBI36
NG_053102.2:g.5391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.225G>C
ENST00000643794.1:c.158G>C	ENSP00000495765.1:p.Arg53Thr
ENST00000651669.1:c.37G>C MANE Select	ENSP00000499044.1:p.Glu13Gln
ENST00000368567.4:c.37G>C	ENSP00000357555.4:p.Glu13Gln
ENST00000392558.4:c.37G>C	ENSP00000376341.4:p.Glu13Gln
ENST00000477151.1:n.192G>C
ENST00000493224.5:n.303G>C
NM_001030.4:c.37G>C	NP_001021.1:p.Glu13Gln
NM_001030.6:c.37G>C MANE Select	NP_001021.1:p.Glu13Gln
NM_001349946.1:c.-60G>C	NP_001336875.1:n.-60G>C
NM_001349947.1:c.-60G>C	NP_001336876.1:n.-60G>C
NM_001349946.2:c.-60G>C	NP_001336875.1:n.-60G>C
NM_001349947.2:c.-60G>C	NP_001336876.1:n.-60G>C