Canonical Allele Identifier: CA346904182
Gene: RPS27A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234204G>T , CM000664.2:g.55234204G>T GRCh38
NC_000002.11:g.55461340G>T , CM000664.1:g.55461340G>T GRCh37
NC_000002.10:g.55314844G>T NCBI36
NG_017017.1:g.7276G>T
NG_033063.1:g.3360C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.189G>T MANE Select ENSP00000272317.6:p.Lys63Asn
ENST00000272317.10:c.189G>T ENSP00000272317.6:p.Lys63Asn
ENST00000402285.7:c.189G>T ENSP00000383981.3:p.Lys63Asn
ENST00000404735.1:c.189G>T ENSP00000385659.1:p.Lys63Asn
ENST00000449323.5:c.189G>T ENSP00000408482.1:p.Lys63Asn
ENST00000468810.1:n.147G>T
ENST00000478196.6:n.226G>T
ENST00000495843.1:n.219G>T
NM_001135592.2:c.189G>T NP_001129064.1:p.Lys63Asn
NM_001177413.1:c.189G>T NP_001170884.1:p.Lys63Asn
NM_002954.5:c.189G>T NP_002945.1:p.Lys63Asn
NM_002954.6:c.189G>T MANE Select NP_002945.1:p.Lys63Asn