Canonical Allele Identifier: CA342587702

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991205-A-G
• MyVariant Identifiers: chr1:g.153963681A>G (hg19) ; chr1:g.153991205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991205A>G , CM000663.2:g.153991205A>G	GRCh38
NC_000001.10:g.153963681A>G , CM000663.1:g.153963681A>G	GRCh37
NC_000001.9:g.152230305A>G	NCBI36
NG_053102.2:g.5451A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477151.2:n.285A>G
ENST00000643794.1:c.218A>G	ENSP00000495765.1:p.His73Arg
ENST00000651669.1:c.97A>G MANE Select	ENSP00000499044.1:p.Met33Val
ENST00000368567.4:c.97A>G	ENSP00000357555.4:p.Met33Val
ENST00000392558.4:c.97A>G	ENSP00000376341.4:p.Met33Val
ENST00000477151.1:n.252A>G
ENST00000493224.5:n.363A>G
NM_001030.4:c.97A>G	NP_001021.1:p.Met33Val
NM_001030.6:c.97A>G MANE Select	NP_001021.1:p.Met33Val
NM_001349946.1:c.1A>G	NP_001336875.1:p.Met1Val
NM_001349947.1:c.1A>G	NP_001336876.1:p.Met1Val
NM_001349946.2:c.1A>G	NP_001336875.1:p.Met1Val
NM_001349947.2:c.1A>G	NP_001336876.1:p.Met1Val