Canonical Allele Identifier: CA1123841
Gene: RPS27 HGNC NCBI

Linked Data

ClinVar Variation Id: 2634491
ClinVar RCV Id: RCV003392798
dbSNP Id: rs772067907
ExAC: 1:153963623 A / C
gnomAD v2: 1-153963623-A-C
gnomAD v3: 1-153991147-A-C
gnomAD v4: 1-153991147-A-C
MyVariant Identifiers: chr1:g.153963623A>C (hg19) chr1:g.153963623_153963626delinsCGAG (hg19) chr1:g.153991147A>C (hg38) chr1:g.153991147_153991150delinsCGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153991147A>C , CM000663.2:g.153991147A>C GRCh38
NC_000001.10:g.153963623A>C , CM000663.1:g.153963623A>C GRCh37
NC_000001.9:g.152230247A>C NCBI36
NG_053102.2:g.5393A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477151.2:n.227A>C
ENST00000643794.1:c.160A>C ENSP00000495765.1:p.Arg54=
ENST00000651669.1:c.39A>C MANE Select ENSP00000499044.1:p.Glu13Asp
ENST00000368567.4:c.39A>C ENSP00000357555.4:p.Glu13Asp
ENST00000392558.4:c.39A>C ENSP00000376341.4:p.Glu13Asp
ENST00000477151.1:n.194A>C
ENST00000493224.5:n.305A>C
NM_001030.4:c.39A>C NP_001021.1:p.Glu13Asp
NM_001030.6:c.39A>C MANE Select NP_001021.1:p.Glu13Asp
NM_001349946.1:c.-58A>C NP_001336875.1:n.-58A>C
NM_001349947.1:c.-58A>C NP_001336876.1:n.-58A>C
NM_001349946.2:c.-58A>C NP_001336875.1:n.-58A>C
NM_001349947.2:c.-58A>C NP_001336876.1:n.-58A>C
Search 100 bp 5'
Search 100 bp 3'