Canonical Allele Identifier: CA770289976

Gene: RPS27A

Linked Data

• dbSNP Id: rs1190089353
• gnomAD v3: 2-55234286-C-G
• gnomAD v4: 2-55234286-C-G
• MyVariant Identifiers: chr2:g.55461422C>G (hg19) ; chr2:g.55234286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234286C>G , CM000664.2:g.55234286C>G	GRCh38
NC_000002.11:g.55461422C>G , CM000664.1:g.55461422C>G	GRCh37
NC_000002.10:g.55314926C>G	NCBI36
NG_017017.1:g.7358C>G
NG_033063.1:g.3278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+82C>G MANE Select	ENSP00000272317.6:n.189+82C>G
ENST00000272317.10:c.189+82C>G	ENSP00000272317.6:n.189+82C>G
ENST00000402285.7:c.189+82C>G	ENSP00000383981.3:n.189+82C>G
ENST00000404735.1:c.189+82C>G	ENSP00000385659.1:n.189+82C>G
ENST00000449323.5:c.189+82C>G	ENSP00000408482.1:n.189+82C>G
ENST00000468810.1:n.229C>G
ENST00000478196.6:n.226+82C>G
ENST00000495843.1:n.301C>G
NM_001135592.2:c.189+82C>G	NP_001129064.1:n.189+82C>G
NM_001177413.1:c.189+82C>G	NP_001170884.1:n.189+82C>G
NM_002954.5:c.189+82C>G	NP_002945.1:n.189+82C>G
NM_002954.6:c.189+82C>G MANE Select	NP_002945.1:n.189+82C>G