Canonical Allele Identifier: CA8930357
Gene: RNF125 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.32018887C>G
GRCh37 chr18:g.29598850C>G
Revel Score:
ENST00000217740 (MANE Select) 0.205
gnomAD v2:
18:29598850 C / G
gnomAD v3:
18:32018887 C / G
gnomAD v4:
chr18-32018887-C-G
Joint Max Group AF 0.00032702 (MID)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00023836 (MID)
ClinVar RCV:
RCV002470520
RCV003250508
ClinVar Variation:
1806236
dbSNP:
759640087
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.32018887C>G , CM000680.2:g.32018887C>G GRCh38
NC_000018.9:g.29598850C>G , CM000680.1:g.29598850C>G GRCh37
NC_000018.8:g.27852848C>G NCBI36
NG_042056.1:g.5406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217740.4:c.24C>G MANE Select ENSP00000217740.3:p.Asp8Glu
ENST00000217740.3:c.24C>G ENSP00000217740.3:p.Asp8Glu
NM_017831.3:c.24C>G NP_060301.2:p.Asp8Glu
XM_011526045.1:c.24C>G XP_011524347.1:p.Asp8Glu
XM_011526046.1:c.24C>G XP_011524348.1:p.Asp8Glu
XM_011526047.1:c.24C>G XP_011524349.1:p.Asp8Glu
XM_011526045.3:c.24C>G XP_011524347.1:p.Asp8Glu
XM_011526046.3:c.24C>G XP_011524348.1:p.Asp8Glu
XM_011526047.3:c.24C>G XP_011524349.1:p.Asp8Glu
NM_017831.4:c.24C>G MANE Select NP_060301.2:p.Asp8Glu
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