Canonical Allele Identifier: CA1123787

Gene: RPS27

Linked Data

• dbSNP Id: rs747778374
• ExAC: 1:153963257 C / T
• gnomAD v2: 1-153963257-C-T
• gnomAD v3: 1-153990781-C-T
• gnomAD v4: 1-153990781-C-T
• MyVariant Identifiers: chr1:g.153963257C>T (hg19) ; chr1:g.153990781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990781C>T , CM000663.2:g.153990781C>T	GRCh38
NC_000001.10:g.153963257C>T , CM000663.1:g.153963257C>T	GRCh37
NC_000001.9:g.152229881C>T	NCBI36
NG_053102.2:g.5027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.-16C>T	ENSP00000495765.1:n.-16C>T
ENST00000651669.1:c.-16C>T MANE Select	ENSP00000499044.1:n.-16C>T
ENST00000368567.4:c.-16C>T	ENSP00000357555.4:n.-16C>T
ENST00000392558.4:c.-16C>T	ENSP00000376341.4:n.-16C>T
ENST00000477151.1:n.19C>T
ENST00000493224.5:n.19C>T
NM_001030.4:c.-16C>T	NP_001021.1:n.-16C>T
NM_001030.6:c.-16C>T MANE Select	NP_001021.1:n.-16C>T
NM_001349946.1:c.-233C>T	NP_001336875.1:n.-233C>T
NM_001349947.1:c.-344C>T	NP_001336876.1:n.-344C>T
NM_001349946.2:c.-233C>T	NP_001336875.1:n.-233C>T
NM_001349947.2:c.-344C>T	NP_001336876.1:n.-344C>T