Canonical Allele Identifier: CA342586985

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991127-C-A
• MyVariant Identifiers: chr1:g.153963603C>A (hg19) ; chr1:g.153991127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991127C>A , CM000663.2:g.153991127C>A	GRCh38
NC_000001.10:g.153963603C>A , CM000663.1:g.153963603C>A	GRCh37
NC_000001.9:g.152230227C>A	NCBI36
NG_053102.2:g.5373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.207C>A
ENST00000643794.1:c.140C>A	ENSP00000495765.1:p.Ser47Tyr
ENST00000651669.1:c.19C>A MANE Select	ENSP00000499044.1:p.Leu7Ile
ENST00000368567.4:c.19C>A	ENSP00000357555.4:p.Leu7Ile
ENST00000392558.4:c.19C>A	ENSP00000376341.4:p.Leu7Ile
ENST00000477151.1:n.174C>A
ENST00000493224.5:n.285C>A
NM_001030.4:c.19C>A	NP_001021.1:p.Leu7Ile
NM_001030.6:c.19C>A MANE Select	NP_001021.1:p.Leu7Ile
NM_001349946.1:c.-78C>A	NP_001336875.1:n.-78C>A
NM_001349947.1:c.-78C>A	NP_001336876.1:n.-78C>A
NM_001349946.2:c.-78C>A	NP_001336875.1:n.-78C>A
NM_001349947.2:c.-78C>A	NP_001336876.1:n.-78C>A