Canonical Allele Identifier: CA1664444

Gene: RPS27A

Linked Data

• dbSNP Id: rs749232324
• ExAC: 2:55461264 C / G
• gnomAD v2: 2-55461264-C-G
• gnomAD v4: 2-55234128-C-G
• MyVariant Identifiers: chr2:g.55461264C>G (hg19) ; chr2:g.55234128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234128C>G , CM000664.2:g.55234128C>G	GRCh38
NC_000002.11:g.55461264C>G , CM000664.1:g.55461264C>G	GRCh37
NC_000002.10:g.55314768C>G	NCBI36
NG_017017.1:g.7200C>G
NG_033063.1:g.3436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.113C>G MANE Select	ENSP00000272317.6:p.Pro38Arg
ENST00000272317.10:c.113C>G	ENSP00000272317.6:p.Pro38Arg
ENST00000402285.7:c.113C>G	ENSP00000383981.3:p.Pro38Arg
ENST00000404735.1:c.113C>G	ENSP00000385659.1:p.Pro38Arg
ENST00000449323.5:c.113C>G	ENSP00000408482.1:p.Pro38Arg
ENST00000468810.1:n.71C>G
ENST00000478196.6:n.150C>G
ENST00000495843.1:n.143C>G
NM_001135592.2:c.113C>G	NP_001129064.1:p.Pro38Arg
NM_001177413.1:c.113C>G	NP_001170884.1:p.Pro38Arg
NM_002954.5:c.113C>G	NP_002945.1:p.Pro38Arg
NM_002954.6:c.113C>G MANE Select	NP_002945.1:p.Pro38Arg