Canonical Allele Identifier: CA346904110
Gene: RPS27A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234195T>G , CM000664.2:g.55234195T>G GRCh38
NC_000002.11:g.55461331T>G , CM000664.1:g.55461331T>G GRCh37
NC_000002.10:g.55314835T>G NCBI36
NG_017017.1:g.7267T>G
NG_033063.1:g.3369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.180T>G MANE Select ENSP00000272317.6:p.Asn60Lys
ENST00000272317.10:c.180T>G ENSP00000272317.6:p.Asn60Lys
ENST00000402285.7:c.180T>G ENSP00000383981.3:p.Asn60Lys
ENST00000404735.1:c.180T>G ENSP00000385659.1:p.Asn60Lys
ENST00000449323.5:c.180T>G ENSP00000408482.1:p.Asn60Lys
ENST00000468810.1:n.138T>G
ENST00000478196.6:n.217T>G
ENST00000495843.1:n.210T>G
NM_001135592.2:c.180T>G NP_001129064.1:p.Asn60Lys
NM_001177413.1:c.180T>G NP_001170884.1:p.Asn60Lys
NM_002954.5:c.180T>G NP_002945.1:p.Asn60Lys
NM_002954.6:c.180T>G MANE Select NP_002945.1:p.Asn60Lys