Canonical Allele Identifier: CA16616870
Gene: RPS23 HGNC NCBI
ATG10 HGNC NCBI

Linked Data

ClinVar Variation Id: 417763
ClinVar RCV Id: RCV000477681 RCV000509194
dbSNP Id: rs1060505034
MyVariant Identifiers: chr5:g.81572302C>T (hg19) chr5:g.82276483C>T (hg38)
PubMed: PMID:28257692
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276483C>T , CM000667.2:g.82276483C>T GRCh38
NC_000005.9:g.81572302C>T , CM000667.1:g.81572302C>T GRCh37
NC_000005.8:g.81608058C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296674.13:c.200G>A (RPS23) MANE Select ENSP00000296674.8:p.Arg67Lys
ENST00000651545.1:c.200G>A (RPS23) ENSP00000498621.1:p.Arg67Lys
ENST00000296674.12:c.200G>A (RPS23) ENSP00000296674.8:p.Arg67Lys
ENST00000503605.1:n.409G>A (RPS23)
ENST00000504293.5:n.295G>A (RPS23)
ENST00000507980.1:c.200G>A (RPS23) ENSP00000422071.1:p.Arg67Lys
ENST00000510019.5:c.200G>A (RPS23) ENSP00000425833.1:p.Arg67Lys
ENST00000510210.5:c.200G>A (RPS23) ENSP00000427043.1:p.Arg67Lys
ENST00000512493.5:c.200G>A (RPS23) ENSP00000425865.1:p.Arg67Lys
ENST00000514253.2:n.530C>T (ATG10)
NM_001025.4:c.200G>A (RPS23) NP_001016.1:p.Arg67Lys
NM_001025.5:c.200G>A (RPS23) MANE Select NP_001016.1:p.Arg67Lys
Search 100 bp 5'
Search 100 bp 3'