Canonical Allele Identifier: CA342587858

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991272-T-C
• MyVariant Identifiers: chr1:g.153963748T>C (hg19) ; chr1:g.153991272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991272T>C , CM000663.2:g.153991272T>C	GRCh38
NC_000001.10:g.153963748T>C , CM000663.1:g.153963748T>C	GRCh37
NC_000001.9:g.152230372T>C	NCBI36
NG_053102.2:g.5518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+49T>C
ENST00000643794.1:c.236+49T>C	ENSP00000495765.1:n.236+49T>C
ENST00000651669.1:c.115+49T>C MANE Select	ENSP00000499044.1:n.115+49T>C
ENST00000368567.4:c.115+49T>C	ENSP00000357555.4:n.115+49T>C
ENST00000392558.4:c.164T>C	ENSP00000376341.4:p.Leu55Ser
ENST00000477151.1:n.270+49T>C
ENST00000493224.5:n.381+49T>C
NM_001030.4:c.115+49T>C	NP_001021.1:n.115+49T>C
NM_001030.6:c.115+49T>C MANE Select	NP_001021.1:n.115+49T>C
NM_001349946.1:c.19+49T>C	NP_001336875.1:n.19+49T>C
NM_001349947.1:c.19+49T>C	NP_001336876.1:n.19+49T>C
NM_001349946.2:c.19+49T>C	NP_001336875.1:n.19+49T>C
NM_001349947.2:c.19+49T>C	NP_001336876.1:n.19+49T>C