Canonical Allele Identifier: CA346903884

Gene: RPS27A

Linked Data

• MyVariant Identifiers: chr2:g.55461297A>T (hg19) ; chr2:g.55234161A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234161A>T , CM000664.2:g.55234161A>T	GRCh38
NC_000002.11:g.55461297A>T , CM000664.1:g.55461297A>T	GRCh37
NC_000002.10:g.55314801A>T	NCBI36
NG_017017.1:g.7233A>T
NG_033063.1:g.3403T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.146A>T MANE Select	ENSP00000272317.6:p.Gln49Leu
ENST00000272317.10:c.146A>T	ENSP00000272317.6:p.Gln49Leu
ENST00000402285.7:c.146A>T	ENSP00000383981.3:p.Gln49Leu
ENST00000404735.1:c.146A>T	ENSP00000385659.1:p.Gln49Leu
ENST00000449323.5:c.146A>T	ENSP00000408482.1:p.Gln49Leu
ENST00000468810.1:n.104A>T
ENST00000478196.6:n.183A>T
ENST00000495843.1:n.176A>T
NM_001135592.2:c.146A>T	NP_001129064.1:p.Gln49Leu
NM_001177413.1:c.146A>T	NP_001170884.1:p.Gln49Leu
NM_002954.5:c.146A>T	NP_002945.1:p.Gln49Leu
NM_002954.6:c.146A>T MANE Select	NP_002945.1:p.Gln49Leu