Canonical Allele Identifier: CA1123889
Gene: RPS27 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.153991550T>C
GRCh37 chr1:g.153964026T>C
gnomAD v2:
1:153964026 T / C
gnomAD v3:
1:153991550 T / C
gnomAD v4:
chr1-153991550-T-C
Joint Max Group AF 0.00011907 (SAS)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.0001255 (SAS)
ClinVar RCV:
RCV002741562
ClinVar Variation:
1974756
dbSNP:
367550840
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153991550T>C , CM000663.2:g.153991550T>C GRCh38
NC_000001.10:g.153964026T>C , CM000663.1:g.153964026T>C GRCh37
NC_000001.9:g.152230650T>C NCBI36
NG_053102.2:g.5796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477151.2:n.304-16T>C
ENST00000643794.1:c.237-16T>C ENSP00000495765.1:n.237-16T>C
ENST00000651669.1:c.116-16T>C MANE Select ENSP00000499044.1:n.116-16T>C
ENST00000368567.4:c.116-16T>C ENSP00000357555.4:n.116-16T>C
ENST00000392558.4:c.*241T>C ENSP00000376341.4:n.*241T>C
ENST00000477151.1:n.271-16T>C
ENST00000493224.5:n.382-16T>C
NM_001030.4:c.116-16T>C NP_001021.1:n.116-16T>C
NM_001030.6:c.116-16T>C MANE Select NP_001021.1:n.116-16T>C
NM_001349946.1:c.20-16T>C NP_001336875.1:n.20-16T>C
NM_001349947.1:c.20-16T>C NP_001336876.1:n.20-16T>C
NM_001349946.2:c.20-16T>C NP_001336875.1:n.20-16T>C
NM_001349947.2:c.20-16T>C NP_001336876.1:n.20-16T>C
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