Canonical Allele Identifier: CA342587151

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991165-C-A
• MyVariant Identifiers: chr1:g.153963641C>A (hg19) ; chr1:g.153991165C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991165C>A , CM000663.2:g.153991165C>A	GRCh38
NC_000001.10:g.153963641C>A , CM000663.1:g.153963641C>A	GRCh37
NC_000001.9:g.152230265C>A	NCBI36
NG_053102.2:g.5411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.245C>A
ENST00000643794.1:c.178C>A	ENSP00000495765.1:p.Gln60Lys
ENST00000651669.1:c.57C>A MANE Select	ENSP00000499044.1:p.His19Gln
ENST00000368567.4:c.57C>A	ENSP00000357555.4:p.His19Gln
ENST00000392558.4:c.57C>A	ENSP00000376341.4:p.His19Gln
ENST00000477151.1:n.212C>A
ENST00000493224.5:n.323C>A
NM_001030.4:c.57C>A	NP_001021.1:p.His19Gln
NM_001030.6:c.57C>A MANE Select	NP_001021.1:p.His19Gln
NM_001349946.1:c.-40C>A	NP_001336875.1:n.-40C>A
NM_001349947.1:c.-40C>A	NP_001336876.1:n.-40C>A
NM_001349946.2:c.-40C>A	NP_001336875.1:n.-40C>A
NM_001349947.2:c.-40C>A	NP_001336876.1:n.-40C>A