Canonical Allele Identifier: CA342587744

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991221-C-A
• MyVariant Identifiers: chr1:g.153963697C>A (hg19) ; chr1:g.153991221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991221C>A , CM000663.2:g.153991221C>A	GRCh38
NC_000001.10:g.153963697C>A , CM000663.1:g.153963697C>A	GRCh37
NC_000001.9:g.152230321C>A	NCBI36
NG_053102.2:g.5467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.301C>A
ENST00000643794.1:c.234C>A	ENSP00000495765.1:p.Pro78=
ENST00000651669.1:c.113C>A MANE Select	ENSP00000499044.1:p.Pro38Gln
ENST00000368567.4:c.113C>A	ENSP00000357555.4:p.Pro38Gln
ENST00000392558.4:c.113C>A	ENSP00000376341.4:p.Pro38Gln
ENST00000477151.1:n.268C>A
ENST00000493224.5:n.379C>A
NM_001030.4:c.113C>A	NP_001021.1:p.Pro38Gln
NM_001030.6:c.113C>A MANE Select	NP_001021.1:p.Pro38Gln
NM_001349946.1:c.17C>A	NP_001336875.1:p.Pro6Gln
NM_001349947.1:c.17C>A	NP_001336876.1:p.Pro6Gln
NM_001349946.2:c.17C>A	NP_001336875.1:p.Pro6Gln
NM_001349947.2:c.17C>A	NP_001336876.1:p.Pro6Gln