Canonical Allele Identifier: CA526386591
Gene: RPS27 HGNC NCBI

Linked Data

dbSNP Id: rs763520169
gnomAD v2: 1-153963238-C-G
gnomAD v3: 1-153990762-C-G
gnomAD v4: 1-153990762-C-G
MyVariant Identifiers: chr1:g.153963238C>G (hg19) chr1:g.153990762C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153990762C>G , CM000663.2:g.153990762C>G GRCh38
NC_000001.10:g.153963238C>G , CM000663.1:g.153963238C>G GRCh37
NC_000001.9:g.152229862C>G NCBI36
NG_053102.2:g.5008C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651669.1:c.-35C>G MANE Select ENSP00000499044.1:n.-35C>G
ENST00000368567.4:c.-35C>G ENSP00000357555.4:n.-35C>G
ENST00000392558.4:c.-35C>G ENSP00000376341.4:n.-35C>G
NM_001030.6:c.-35C>G MANE Select NP_001021.1:n.-35C>G
NM_001349946.1:c.-252C>G NP_001336875.1:n.-252C>G
NM_001349947.1:c.-363C>G NP_001336876.1:n.-363C>G
NM_001349946.2:c.-252C>G NP_001336875.1:n.-252C>G
NM_001349947.2:c.-363C>G NP_001336876.1:n.-363C>G
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