Canonical Allele Identifier: CA2659094297
Gene: RPS27A HGNC NCBI

Linked Data

gnomAD v4: 2-55234278-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234278G>T , CM000664.2:g.55234278G>T GRCh38
NC_000002.11:g.55461414G>T , CM000664.1:g.55461414G>T GRCh37
NC_000002.10:g.55314918G>T NCBI36
NG_017017.1:g.7350G>T
NG_033063.1:g.3286C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.189+74G>T MANE Select ENSP00000272317.6:n.189+74G>T
ENST00000272317.10:c.189+74G>T ENSP00000272317.6:n.189+74G>T
ENST00000402285.7:c.189+74G>T ENSP00000383981.3:n.189+74G>T
ENST00000404735.1:c.189+74G>T ENSP00000385659.1:n.189+74G>T
ENST00000449323.5:c.189+74G>T ENSP00000408482.1:n.189+74G>T
ENST00000468810.1:n.221G>T
ENST00000478196.6:n.226+74G>T
ENST00000495843.1:n.293G>T
NM_001135592.2:c.189+74G>T NP_001129064.1:n.189+74G>T
NM_001177413.1:c.189+74G>T NP_001170884.1:n.189+74G>T
NM_002954.5:c.189+74G>T NP_002945.1:n.189+74G>T
NM_002954.6:c.189+74G>T MANE Select NP_002945.1:n.189+74G>T