Canonical Allele Identifier: CA342587804

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991247-G-T
• MyVariant Identifiers: chr1:g.153963723G>T (hg19) ; chr1:g.153991247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991247G>T , CM000663.2:g.153991247G>T	GRCh38
NC_000001.10:g.153963723G>T , CM000663.1:g.153963723G>T	GRCh37
NC_000001.9:g.152230347G>T	NCBI36
NG_053102.2:g.5493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+24G>T
ENST00000643794.1:c.236+24G>T	ENSP00000495765.1:n.236+24G>T
ENST00000651669.1:c.115+24G>T MANE Select	ENSP00000499044.1:n.115+24G>T
ENST00000368567.4:c.115+24G>T	ENSP00000357555.4:n.115+24G>T
ENST00000392558.4:c.139G>T	ENSP00000376341.4:p.Gly47Trp
ENST00000477151.1:n.270+24G>T
ENST00000493224.5:n.381+24G>T
NM_001030.4:c.115+24G>T	NP_001021.1:n.115+24G>T
NM_001030.6:c.115+24G>T MANE Select	NP_001021.1:n.115+24G>T
NM_001349946.1:c.19+24G>T	NP_001336875.1:n.19+24G>T
NM_001349947.1:c.19+24G>T	NP_001336876.1:n.19+24G>T
NM_001349946.2:c.19+24G>T	NP_001336875.1:n.19+24G>T
NM_001349947.2:c.19+24G>T	NP_001336876.1:n.19+24G>T