Canonical Allele Identifier: CA341244
Gene: RPS17 HGNC NCBI

Linked Data

ClinVar Variation Id: 12999
ClinVar RCV Id: RCV000013873 RCV002433453
dbSNP Id: rs116840811
MyVariant Identifiers: chr15:g.82824835A>C (hg19) chr15:g.82540427A>C (hg38)
PubMed: PMID:17647292 PMID:20301769
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82540427A>C , CM000677.2:g.82540427A>C GRCh38
NC_000015.9:g.82824835A>C , CM000677.1:g.82824835A>C GRCh37
NC_000015.8:g.80611890A>C NCBI36
NG_009890.1:g.4811T>G
NG_009890.2:g.5118T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560229.6:n.31T>G
ENST00000562833.2:c.1351-295T>G ENSP00000454786.2:n.1351-295T>G
ENST00000642270.1:c.1358-295T>G ENSP00000496443.1:n.1358-295T>G
ENST00000647841.1:c.2T>G MANE Select ENSP00000498019.1:p.Met1Arg
ENST00000330244.10:c.2T>G ENSP00000346046.5:p.Met1Arg
ENST00000558397.1:c.2T>G ENSP00000452889.1:p.Met1Arg
ENST00000559273.1:n.30T>G
ENST00000560229.5:n.31T>G
ENST00000560639.1:n.26T>G
ENST00000561157.5:c.2T>G ENSP00000453910.1:p.Met1Arg
ENST00000562833.1:c.780-295T>G
NM_001021.4:c.2T>G NP_001012.1:p.Met1Arg
NR_111943.1:n.31T>G
NR_111944.1:n.118T>G
NM_001021.6:c.2T>G MANE Select NP_001012.1:p.Met1Arg
NR_111944.2:n.138T>G
NR_111943.2:n.31T>G
NR_111944.3:n.31T>G
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