Canonical Allele Identifier: CA30768904

Gene: RPS27

Linked Data

• dbSNP Id: rs17838765
• gnomAD v4: 1-153991208-G-T
• MyVariant Identifiers: chr1:g.153963684G>T (hg19) ; chr1:g.153991208G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991208G>T , CM000663.2:g.153991208G>T	GRCh38
NC_000001.10:g.153963684G>T , CM000663.1:g.153963684G>T	GRCh37
NC_000001.9:g.152230308G>T	NCBI36
NG_053102.2:g.5454G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477151.2:n.288G>T
ENST00000643794.1:c.221G>T	ENSP00000495765.1:p.Gly74Val
ENST00000651669.1:c.100G>T MANE Select	ENSP00000499044.1:p.Asp34Tyr
ENST00000368567.4:c.100G>T	ENSP00000357555.4:p.Asp34Tyr
ENST00000392558.4:c.100G>T	ENSP00000376341.4:p.Asp34Tyr
ENST00000477151.1:n.255G>T
ENST00000493224.5:n.366G>T
NM_001030.4:c.100G>T	NP_001021.1:p.Asp34Tyr
NM_001030.6:c.100G>T MANE Select	NP_001021.1:p.Asp34Tyr
NM_001349946.1:c.4G>T	NP_001336875.1:p.Asp2Tyr
NM_001349947.1:c.4G>T	NP_001336876.1:p.Asp2Tyr
NM_001349946.2:c.4G>T	NP_001336875.1:p.Asp2Tyr
NM_001349947.2:c.4G>T	NP_001336876.1:p.Asp2Tyr