Canonical Allele Identifier: CA1123813

Gene: RPS27

Linked Data

• dbSNP Id: rs775784309
• ExAC: 1:153963302 G / C
• gnomAD v2: 1-153963302-G-C
• gnomAD v4: 1-153990826-G-C
• MyVariant Identifiers: chr1:g.153963302G>C (hg19) ; chr1:g.153990826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990826G>C , CM000663.2:g.153990826G>C	GRCh38
NC_000001.10:g.153963302G>C , CM000663.1:g.153963302G>C	GRCh37
NC_000001.9:g.152229926G>C	NCBI36
NG_053102.2:g.5072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.6+24G>C	ENSP00000495765.1:n.6+24G>C
ENST00000651669.1:c.6+24G>C MANE Select	ENSP00000499044.1:n.6+24G>C
ENST00000368567.4:c.6+24G>C	ENSP00000357555.4:n.6+24G>C
ENST00000392558.4:c.6+24G>C	ENSP00000376341.4:n.6+24G>C
ENST00000477151.1:n.40+24G>C
ENST00000493224.5:n.64G>C
NM_001030.4:c.6+24G>C	NP_001021.1:n.6+24G>C
NM_001030.6:c.6+24G>C MANE Select	NP_001021.1:n.6+24G>C
NM_001349946.1:c.-212+24G>C	NP_001336875.1:n.-212+24G>C
NM_001349947.1:c.-299G>C	NP_001336876.1:n.-299G>C
NM_001349946.2:c.-212+24G>C	NP_001336875.1:n.-212+24G>C
NM_001349947.2:c.-299G>C	NP_001336876.1:n.-299G>C