Canonical Allele Identifier: CA1123808

Gene: RPS27

Linked Data

• ClinVar Variation Id: 1973866
• ClinVar RCV Id: RCV002765413
• dbSNP Id: rs368629605
• ExAC: 1:153963293 C / T
• gnomAD v2: 1-153963293-C-T
• gnomAD v3: 1-153990817-C-T
• gnomAD v4: 1-153990817-C-T
• MyVariant Identifiers: chr1:g.153963293C>T (hg19) ; chr1:g.153990817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990817C>T , CM000663.2:g.153990817C>T	GRCh38
NC_000001.10:g.153963293C>T , CM000663.1:g.153963293C>T	GRCh37
NC_000001.9:g.152229917C>T	NCBI36
NG_053102.2:g.5063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.6+15C>T	ENSP00000495765.1:n.6+15C>T
ENST00000651669.1:c.6+15C>T MANE Select	ENSP00000499044.1:n.6+15C>T
ENST00000368567.4:c.6+15C>T	ENSP00000357555.4:n.6+15C>T
ENST00000392558.4:c.6+15C>T	ENSP00000376341.4:n.6+15C>T
ENST00000477151.1:n.40+15C>T
ENST00000493224.5:n.55C>T
NM_001030.4:c.6+15C>T	NP_001021.1:n.6+15C>T
NM_001030.6:c.6+15C>T MANE Select	NP_001021.1:n.6+15C>T
NM_001349946.1:c.-212+15C>T	NP_001336875.1:n.-212+15C>T
NM_001349947.1:c.-308C>T	NP_001336876.1:n.-308C>T
NM_001349946.2:c.-212+15C>T	NP_001336875.1:n.-212+15C>T
NM_001349947.2:c.-308C>T	NP_001336876.1:n.-308C>T