Canonical Allele Identifier: CA186101
Gene: RNF125 HGNC NCBI

Linked Data

ClinVar Variation Id: 183422
ClinVar RCV Id: RCV000162243
dbSNP Id: rs370242930
ExAC: 18:29645880 C / T
gnomAD v2: 18-29645880-C-T
gnomAD v3: 18-32065917-C-T
gnomAD v4: 18-32065917-C-T
MyVariant Identifiers: chr18:g.29645880C>T (hg19) chr18:g.32065917C>T (hg38)
PubMed: PMID:25196541
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.32065917C>T , CM000680.2:g.32065917C>T GRCh38
NC_000018.9:g.29645880C>T , CM000680.1:g.29645880C>T GRCh37
NC_000018.8:g.27899878C>T NCBI36
NG_042056.1:g.52436C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000217740.4:c.520C>T MANE Select ENSP00000217740.3:p.Arg174Cys
ENST00000217740.3:c.520C>T ENSP00000217740.3:p.Arg174Cys
ENST00000580209.1:c.192C>T
ENST00000580863.1:n.302C>T
ENST00000583384.5:n.363C>T
ENST00000583814.5:n.460-2381C>T
NM_017831.3:c.520C>T NP_060301.2:p.Arg174Cys
XM_011526045.1:c.520C>T XP_011524347.1:p.Arg174Cys
XM_011526046.1:c.505-2381C>T XP_011524348.1:n.505-2381C>T
XM_011526047.1:c.504+20185C>T XP_011524349.1:n.504+20185C>T
XM_011526045.3:c.520C>T XP_011524347.1:p.Arg174Cys
XM_011526046.3:c.505-2381C>T XP_011524348.1:n.505-2381C>T
XM_011526047.3:c.504+20185C>T XP_011524349.1:n.504+20185C>T
NM_017831.4:c.520C>T MANE Select NP_060301.2:p.Arg174Cys
Search 100 bp 5'
Search 100 bp 3'