Canonical Allele Identifier: CA1123799

Gene: RPS27

Linked Data

• dbSNP Id: rs374209302
• ExAC: 1:153963269 G / A
• gnomAD v2: 1-153963269-G-A
• gnomAD v3: 1-153990793-G-A
• gnomAD v4: 1-153990793-G-A
• MyVariant Identifiers: chr1:g.153963269G>A (hg19) ; chr1:g.153990793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990793G>A , CM000663.2:g.153990793G>A	GRCh38
NC_000001.10:g.153963269G>A , CM000663.1:g.153963269G>A	GRCh37
NC_000001.9:g.152229893G>A	NCBI36
NG_053102.2:g.5039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.-4G>A	ENSP00000495765.1:n.-4G>A
ENST00000651669.1:c.-4G>A MANE Select	ENSP00000499044.1:n.-4G>A
ENST00000368567.4:c.-4G>A	ENSP00000357555.4:n.-4G>A
ENST00000392558.4:c.-4G>A	ENSP00000376341.4:n.-4G>A
ENST00000477151.1:n.31G>A
ENST00000493224.5:n.31G>A
NM_001030.4:c.-4G>A	NP_001021.1:n.-4G>A
NM_001030.6:c.-4G>A MANE Select	NP_001021.1:n.-4G>A
NM_001349946.1:c.-221G>A	NP_001336875.1:n.-221G>A
NM_001349947.1:c.-332G>A	NP_001336876.1:n.-332G>A
NM_001349946.2:c.-221G>A	NP_001336875.1:n.-221G>A
NM_001349947.2:c.-332G>A	NP_001336876.1:n.-332G>A