Canonical Allele Identifier: CA1664455

Gene: RPS27A

Linked Data

• dbSNP Id: rs753215449
• ExAC: 2:55461325 C / G
• gnomAD v2: 2-55461325-C-G
• gnomAD v4: 2-55234189-C-G
• MyVariant Identifiers: chr2:g.55461325C>G (hg19) ; chr2:g.55234189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234189C>G , CM000664.2:g.55234189C>G	GRCh38
NC_000002.11:g.55461325C>G , CM000664.1:g.55461325C>G	GRCh37
NC_000002.10:g.55314829C>G	NCBI36
NG_017017.1:g.7261C>G
NG_033063.1:g.3375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.174C>G MANE Select	ENSP00000272317.6:p.Asp58Glu
ENST00000272317.10:c.174C>G	ENSP00000272317.6:p.Asp58Glu
ENST00000402285.7:c.174C>G	ENSP00000383981.3:p.Asp58Glu
ENST00000404735.1:c.174C>G	ENSP00000385659.1:p.Asp58Glu
ENST00000449323.5:c.174C>G	ENSP00000408482.1:p.Asp58Glu
ENST00000468810.1:n.132C>G
ENST00000478196.6:n.211C>G
ENST00000495843.1:n.204C>G
NM_001135592.2:c.174C>G	NP_001129064.1:p.Asp58Glu
NM_001177413.1:c.174C>G	NP_001170884.1:p.Asp58Glu
NM_002954.5:c.174C>G	NP_002945.1:p.Asp58Glu
NM_002954.6:c.174C>G MANE Select	NP_002945.1:p.Asp58Glu