Canonical Allele Identifier: CA346904146

Gene: RPS27A

Linked Data

• MyVariant Identifiers: chr2:g.55461337A>C (hg19) ; chr2:g.55234201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234201A>C , CM000664.2:g.55234201A>C	GRCh38
NC_000002.11:g.55461337A>C , CM000664.1:g.55461337A>C	GRCh37
NC_000002.10:g.55314841A>C	NCBI36
NG_017017.1:g.7273A>C
NG_033063.1:g.3363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.186A>C MANE Select	ENSP00000272317.6:p.Gln62His
ENST00000272317.10:c.186A>C	ENSP00000272317.6:p.Gln62His
ENST00000402285.7:c.186A>C	ENSP00000383981.3:p.Gln62His
ENST00000404735.1:c.186A>C	ENSP00000385659.1:p.Gln62His
ENST00000449323.5:c.186A>C	ENSP00000408482.1:p.Gln62His
ENST00000468810.1:n.144A>C
ENST00000478196.6:n.223A>C
ENST00000495843.1:n.216A>C
NM_001135592.2:c.186A>C	NP_001129064.1:p.Gln62His
NM_001177413.1:c.186A>C	NP_001170884.1:p.Gln62His
NM_002954.5:c.186A>C	NP_002945.1:p.Gln62His
NM_002954.6:c.186A>C MANE Select	NP_002945.1:p.Gln62His