Canonical Allele Identifier: CA1664454
Gene: RPS27A HGNC NCBI

Linked Data

dbSNP Id: rs11557872
gnomAD v2: 2-55461320-T-C
gnomAD v3: 2-55234184-T-C
gnomAD v4: 2-55234184-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234184T>C , CM000664.2:g.55234184T>C GRCh38
NC_000002.11:g.55461320T>C , CM000664.1:g.55461320T>C GRCh37
NC_000002.10:g.55314824T>C NCBI36
NG_017017.1:g.7256T>C
NG_033063.1:g.3380A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272317.11:c.169T>C MANE Select ENSP00000272317.6:p.Ser57Pro
ENST00000272317.10:c.169T>C ENSP00000272317.6:p.Ser57Pro
ENST00000402285.7:c.169T>C ENSP00000383981.3:p.Ser57Pro
ENST00000404735.1:c.169T>C ENSP00000385659.1:p.Ser57Pro
ENST00000449323.5:c.169T>C ENSP00000408482.1:p.Ser57Pro
ENST00000468810.1:n.127T>C
ENST00000478196.6:n.206T>C
ENST00000495843.1:n.199T>C
NM_001135592.2:c.169T>C NP_001129064.1:p.Ser57Pro
NM_001177413.1:c.169T>C NP_001170884.1:p.Ser57Pro
NM_002954.5:c.169T>C NP_002945.1:p.Ser57Pro
NM_002954.6:c.169T>C MANE Select NP_002945.1:p.Ser57Pro