Canonical Allele Identifier: CA8930365
Gene: RNF125 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.32018910C>G
GRCh37 chr18:g.29598873C>G
Revel Score:
ENST00000217740 (MANE Select) 0.317
gnomAD v2:
18:29598873 C / G
gnomAD v3:
18:32018910 C / G
gnomAD v4:
chr18-32018910-C-G
Joint Max Group AF 0.00005641 (NFE)
Exomes Max Group AF 0.00005899 (NFE)
ClinVar RCV:
RCV000652521
ClinVar Variation:
542140
dbSNP:
766520562
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.32018910C>G , CM000680.2:g.32018910C>G GRCh38
NC_000018.9:g.29598873C>G , CM000680.1:g.29598873C>G GRCh37
NC_000018.8:g.27852871C>G NCBI36
NG_042056.1:g.5429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217740.4:c.47C>G MANE Select ENSP00000217740.3:p.Ser16Cys
ENST00000217740.3:c.47C>G ENSP00000217740.3:p.Ser16Cys
NM_017831.3:c.47C>G NP_060301.2:p.Ser16Cys
XM_011526045.1:c.47C>G XP_011524347.1:p.Ser16Cys
XM_011526046.1:c.47C>G XP_011524348.1:p.Ser16Cys
XM_011526047.1:c.47C>G XP_011524349.1:p.Ser16Cys
XM_011526045.3:c.47C>G XP_011524347.1:p.Ser16Cys
XM_011526046.3:c.47C>G XP_011524348.1:p.Ser16Cys
XM_011526047.3:c.47C>G XP_011524349.1:p.Ser16Cys
NM_017831.4:c.47C>G MANE Select NP_060301.2:p.Ser16Cys
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