Canonical Allele Identifier: CA346904004

Gene: RPS27A

Linked Data

• MyVariant Identifiers: chr2:g.55461317T>A (hg19) ; chr2:g.55234181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234181T>A , CM000664.2:g.55234181T>A	GRCh38
NC_000002.11:g.55461317T>A , CM000664.1:g.55461317T>A	GRCh37
NC_000002.10:g.55314821T>A	NCBI36
NG_017017.1:g.7253T>A
NG_033063.1:g.3383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.166T>A MANE Select	ENSP00000272317.6:p.Leu56Met
ENST00000272317.10:c.166T>A	ENSP00000272317.6:p.Leu56Met
ENST00000402285.7:c.166T>A	ENSP00000383981.3:p.Leu56Met
ENST00000404735.1:c.166T>A	ENSP00000385659.1:p.Leu56Met
ENST00000449323.5:c.166T>A	ENSP00000408482.1:p.Leu56Met
ENST00000468810.1:n.124T>A
ENST00000478196.6:n.203T>A
ENST00000495843.1:n.196T>A
NM_001135592.2:c.166T>A	NP_001129064.1:p.Leu56Met
NM_001177413.1:c.166T>A	NP_001170884.1:p.Leu56Met
NM_002954.5:c.166T>A	NP_002945.1:p.Leu56Met
NM_002954.6:c.166T>A MANE Select	NP_002945.1:p.Leu56Met