Canonical Allele Identifier: CA1123802

Gene: RPS27

Linked Data

• dbSNP Id: rs754848441
• ExAC: 1:153963272 C / G
• gnomAD v2: 1-153963272-C-G
• gnomAD v3: 1-153990796-C-G
• gnomAD v4: 1-153990796-C-G
• MyVariant Identifiers: chr1:g.153963272C>G (hg19) ; chr1:g.153990796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990796C>G , CM000663.2:g.153990796C>G	GRCh38
NC_000001.10:g.153963272C>G , CM000663.1:g.153963272C>G	GRCh37
NC_000001.9:g.152229896C>G	NCBI36
NG_053102.2:g.5042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.-1C>G	ENSP00000495765.1:n.-1C>G
ENST00000651669.1:c.-1C>G MANE Select	ENSP00000499044.1:n.-1C>G
ENST00000368567.4:c.-1C>G	ENSP00000357555.4:n.-1C>G
ENST00000392558.4:c.-1C>G	ENSP00000376341.4:n.-1C>G
ENST00000477151.1:n.34C>G
ENST00000493224.5:n.34C>G
NM_001030.4:c.-1C>G	NP_001021.1:n.-1C>G
NM_001030.6:c.-1C>G MANE Select	NP_001021.1:n.-1C>G
NM_001349946.1:c.-218C>G	NP_001336875.1:n.-218C>G
NM_001349947.1:c.-329C>G	NP_001336876.1:n.-329C>G
NM_001349946.2:c.-218C>G	NP_001336875.1:n.-218C>G
NM_001349947.2:c.-329C>G	NP_001336876.1:n.-329C>G