Canonical Allele Identifier: CA426169937

Gene: RPS27A

Linked Data

• MyVariant Identifiers: chr2:g.55461299C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234163C>T , CM000664.2:g.55234163C>T	GRCh38
NC_000002.11:g.55461299C>T , CM000664.1:g.55461299C>T	GRCh37
NC_000002.10:g.55314803C>T	NCBI36
NG_017017.1:g.7235C>T
NG_033063.1:g.3401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.148C>T MANE Select	ENSP00000272317.6:p.Leu50=
ENST00000272317.10:c.148C>T	ENSP00000272317.6:p.Leu50=
ENST00000402285.7:c.148C>T	ENSP00000383981.3:p.Leu50=
ENST00000404735.1:c.148C>T	ENSP00000385659.1:p.Leu50=
ENST00000449323.5:c.148C>T	ENSP00000408482.1:p.Leu50=
ENST00000468810.1:n.106C>T
ENST00000478196.6:n.185C>T
ENST00000495843.1:n.178C>T
NM_001135592.2:c.148C>T	NP_001129064.1:p.Leu50=
NM_001177413.1:c.148C>T	NP_001170884.1:p.Leu50=
NM_002954.5:c.148C>T	NP_002945.1:p.Leu50=
NM_002954.6:c.148C>T MANE Select	NP_002945.1:p.Leu50=