Canonical Allele Identifier: CA1123874

Gene: RPS27

Linked Data

• dbSNP Id: rs574313152
• ExAC: 1:153963830 C / A
• gnomAD v2: 1-153963830-C-A
• gnomAD v3: 1-153991354-C-A
• gnomAD v4: 1-153991354-C-A
• MyVariant Identifiers: chr1:g.153963830C>A (hg19) ; chr1:g.153991354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991354C>A , CM000663.2:g.153991354C>A	GRCh38
NC_000001.10:g.153963830C>A , CM000663.1:g.153963830C>A	GRCh37
NC_000001.9:g.152230454C>A	NCBI36
NG_053102.2:g.5600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+131C>A
ENST00000643794.1:c.236+131C>A	ENSP00000495765.1:n.236+131C>A
ENST00000651669.1:c.115+131C>A MANE Select	ENSP00000499044.1:n.115+131C>A
ENST00000368567.4:c.115+131C>A	ENSP00000357555.4:n.115+131C>A
ENST00000392558.4:c.*45C>A	ENSP00000376341.4:n.*45C>A
ENST00000477151.1:n.270+131C>A
ENST00000493224.5:n.381+131C>A
NM_001030.4:c.115+131C>A	NP_001021.1:n.115+131C>A
NM_001030.6:c.115+131C>A MANE Select	NP_001021.1:n.115+131C>A
NM_001349946.1:c.19+131C>A	NP_001336875.1:n.19+131C>A
NM_001349947.1:c.19+131C>A	NP_001336876.1:n.19+131C>A
NM_001349946.2:c.19+131C>A	NP_001336875.1:n.19+131C>A
NM_001349947.2:c.19+131C>A	NP_001336876.1:n.19+131C>A