Canonical Allele Identifier: CA342587699
Gene: RPS27 HGNC NCBI

Linked Data

dbSNP Id: rs1307484406
gnomAD v4: 1-153991204-C-A
MyVariant Identifiers: chr1:g.153963680C>A (hg19) chr1:g.153991204C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153991204C>A , CM000663.2:g.153991204C>A GRCh38
NC_000001.10:g.153963680C>A , CM000663.1:g.153963680C>A GRCh37
NC_000001.9:g.152230304C>A NCBI36
NG_053102.2:g.5450C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000477151.2:n.284C>A
ENST00000643794.1:c.217C>A ENSP00000495765.1:p.His73Asn
ENST00000651669.1:c.96C>A MANE Select ENSP00000499044.1:p.Phe32Leu
ENST00000368567.4:c.96C>A ENSP00000357555.4:p.Phe32Leu
ENST00000392558.4:c.96C>A ENSP00000376341.4:p.Phe32Leu
ENST00000477151.1:n.251C>A
ENST00000493224.5:n.362C>A
NM_001030.4:c.96C>A NP_001021.1:p.Phe32Leu
NM_001030.6:c.96C>A MANE Select NP_001021.1:p.Phe32Leu
NM_001349946.1:c.-1C>A NP_001336875.1:n.-1C>A
NM_001349947.1:c.-1C>A NP_001336876.1:n.-1C>A
NM_001349946.2:c.-1C>A NP_001336875.1:n.-1C>A
NM_001349947.2:c.-1C>A NP_001336876.1:n.-1C>A
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