Canonical Allele Identifier: CA532802975

Gene: RPS27A

Linked Data

• dbSNP Id: rs1168777644
• gnomAD v2: 2-55461368-T-C
• gnomAD v3: 2-55234232-T-C
• gnomAD v4: 2-55234232-T-C
• MyVariant Identifiers: chr2:g.55461368T>C (hg19) ; chr2:g.55234232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234232T>C , CM000664.2:g.55234232T>C	GRCh38
NC_000002.11:g.55461368T>C , CM000664.1:g.55461368T>C	GRCh37
NC_000002.10:g.55314872T>C	NCBI36
NG_017017.1:g.7304T>C
NG_033063.1:g.3332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+28T>C MANE Select	ENSP00000272317.6:n.189+28T>C
ENST00000272317.10:c.189+28T>C	ENSP00000272317.6:n.189+28T>C
ENST00000402285.7:c.189+28T>C	ENSP00000383981.3:n.189+28T>C
ENST00000404735.1:c.189+28T>C	ENSP00000385659.1:n.189+28T>C
ENST00000449323.5:c.189+28T>C	ENSP00000408482.1:n.189+28T>C
ENST00000468810.1:n.175T>C
ENST00000478196.6:n.226+28T>C
ENST00000495843.1:n.247T>C
NM_001135592.2:c.189+28T>C	NP_001129064.1:n.189+28T>C
NM_001177413.1:c.189+28T>C	NP_001170884.1:n.189+28T>C
NM_002954.5:c.189+28T>C	NP_002945.1:n.189+28T>C
NM_002954.6:c.189+28T>C MANE Select	NP_002945.1:n.189+28T>C