Canonical Allele Identifier: CA30768702

Gene: RPS27

Linked Data

• dbSNP Id: rs746739924
• gnomAD v4: 1-153991026-C-T
• MyVariant Identifiers: chr1:g.153963502C>T (hg19) ; chr1:g.153991026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991026C>T , CM000663.2:g.153991026C>T	GRCh38
NC_000001.10:g.153963502C>T , CM000663.1:g.153963502C>T	GRCh37
NC_000001.9:g.152230126C>T	NCBI36
NG_053102.2:g.5272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.106C>T
ENST00000643794.1:c.119C>T	ENSP00000495765.1:p.Ala40Val
ENST00000651669.1:c.7-89C>T MANE Select	ENSP00000499044.1:n.7-89C>T
ENST00000368567.4:c.7-89C>T	ENSP00000357555.4:n.7-89C>T
ENST00000392558.4:c.7-89C>T	ENSP00000376341.4:n.7-89C>T
ENST00000477151.1:n.153C>T
ENST00000493224.5:n.264C>T
NM_001030.4:c.7-89C>T	NP_001021.1:n.7-89C>T
NM_001030.6:c.7-89C>T MANE Select	NP_001021.1:n.7-89C>T
NM_001349946.1:c.-99C>T	NP_001336875.1:n.-99C>T
NM_001349947.1:c.-99C>T	NP_001336876.1:n.-99C>T
NM_001349946.2:c.-99C>T	NP_001336875.1:n.-99C>T
NM_001349947.2:c.-99C>T	NP_001336876.1:n.-99C>T