Canonical Allele Identifier: CA2659094283
Gene: RPS27A HGNC NCBI

Linked Data

gnomAD v4: 2-55234260-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234260T>A , CM000664.2:g.55234260T>A GRCh38
NC_000002.11:g.55461396T>A , CM000664.1:g.55461396T>A GRCh37
NC_000002.10:g.55314900T>A NCBI36
NG_017017.1:g.7332T>A
NG_033063.1:g.3304A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.189+56T>A MANE Select ENSP00000272317.6:n.189+56T>A
ENST00000272317.10:c.189+56T>A ENSP00000272317.6:n.189+56T>A
ENST00000402285.7:c.189+56T>A ENSP00000383981.3:n.189+56T>A
ENST00000404735.1:c.189+56T>A ENSP00000385659.1:n.189+56T>A
ENST00000449323.5:c.189+56T>A ENSP00000408482.1:n.189+56T>A
ENST00000468810.1:n.203T>A
ENST00000478196.6:n.226+56T>A
ENST00000495843.1:n.275T>A
NM_001135592.2:c.189+56T>A NP_001129064.1:n.189+56T>A
NM_001177413.1:c.189+56T>A NP_001170884.1:n.189+56T>A
NM_002954.5:c.189+56T>A NP_002945.1:n.189+56T>A
NM_002954.6:c.189+56T>A MANE Select NP_002945.1:n.189+56T>A